Gene:
DPYD
dihydropyrimidine dehydrogenase

Available Guidelines

  1. CPIC Guideline for capecitabine and DPYD
  2. CPIC Guideline for fluorouracil and DPYD
  3. CPIC Guideline for tegafur and DPYD
  4. DPWG Guideline for capecitabine and DPYD
  5. DPWG Guideline for fluorouracil and DPYD
  6. DPWG Guideline for tegafur and DPYD

last updated 09/15/2016

1. CPIC Guideline for capecitabine and DPYD

Summary

The CPIC Dosing Guidelines for fluoropyrimidines (i.e. 5-fluorouracil, capecitabine or tegafur) recommends an alternative drug for patients who are homozygous for DPYD non-functional variants - *2A (rs3918290), *13 (rs55886062), and rs67376798 A (on the positive chromosomal strand) - as these patients are typically DPD deficient. Consider a 50% reduction in starting dose for heterozygous patients (intermediate activity).

There's more of this guideline. Read more.


last updated 09/15/2016

2. CPIC Guideline for fluorouracil and DPYD

Summary

The CPIC Dosing Guidelines for fluoropyrimidines (i.e. 5-fluorouracil, capecitabine or tegafur) recommends an alternative drug for patients who are homozygous for DPYD non-functional variants - *2A (rs3918290), *13 (rs55886062), and rs67376798 A (on the positive chromosomal strand) - as these patients are typically DPD deficient. Consider a 50% reduction in starting dose for heterozygous patients (intermediate activity).

There's more of this guideline. Read more.


last updated 09/15/2016

3. CPIC Guideline for tegafur and DPYD

Summary

The CPIC Dosing Guidelines for fluoropyrimidines (i.e. 5-fluorouracil, capecitabine or tegafur) recommends an alternative drug for patients who are homozygous for DPYD non-functional variants - *2A (rs3918290), *13 (rs55886062), and rs67376798 A (on the positive chromosomal strand) - as these patients are typically DPD deficient. Consider a 50% reduction in starting dose for heterozygous patients (intermediate activity).

There's more of this guideline. Read more.


last updated 02/07/2014

4. DPWG Guideline for capecitabine and DPYD

Summary

Select an alternate drug to capecitabine for DPYD poor metabolizer patients, and reduce capecitabine dose (by 50%) or select an alternate drug for DPYD intermediate metabolizers.

There's more of this guideline. Read more.


last updated 02/07/2014

5. DPWG Guideline for fluorouracil and DPYD

Summary

An alternative drug rather than fluorouracil is recommended for DPYD poor metabolizer patients, and a reduced dose (by 50%) of fluorouracil or use of an alternative drug is recommended for intermediate metabolizer patients.

There's more of this guideline. Read more.




Annotated Labels

  1. FDA Label for capecitabine and DPYD
  2. FDA Label for fluorouracil and DPYD
  3. EMA Label for capecitabine and DPYD
  4. PMDA Label for capecitabine and DPYD
  5. PMDA Label for fluorouracil and DPYD
  6. HCSC Label for capecitabine and DPYD
  7. HCSC Label for fluorouracil and DPYD








Clinical Variants that meet the highest level of criteria, manually curated by PharmGKB, are shown below. Please follow the link in the "Position" column for more information about a particular variant. Each link in the "Position" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

? = Mouse-over for quick help

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all variant annotations for DPYD

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available CA VA *1 N/A N/A N/A
No VIP available No VIP available VA *2A N/A N/A N/A
No VIP available No VIP available VA *2B N/A N/A N/A
No VIP available No VIP available VA *3 N/A N/A N/A
No VIP available No VIP available VA *4 N/A N/A N/A
No VIP available No VIP available VA *5 N/A N/A N/A
No VIP available No VIP available VA *6 N/A N/A N/A
No VIP available No VIP available VA *7 N/A N/A N/A
No VIP available No VIP available VA *8 N/A N/A N/A
No VIP available No VIP available VA *9A N/A N/A N/A
No VIP available CA VA *9B N/A N/A N/A
No VIP available No VIP available VA *10 N/A N/A N/A
No VIP available No VIP available VA *11 N/A N/A N/A
No VIP available CA VA *12 N/A N/A N/A
No VIP available No VIP available VA *13 N/A N/A N/A
No VIP available No Clinical Annotations available VA
DPYD poor metabolizer N/A N/A N/A
No VIP available No Clinical Annotations available VA
DPYD deficiency N/A N/A N/A
No VIP available No Clinical Annotations available VA
rs111858276 NC_000001.10:g.98015156T>C, NC_000001.11:g.97549600T>C, NG_008807.2:g.376460A>G, NM_000110.3:c.1484A>G, NP_000101.2:p.Asp495Gly, XM_005270561.1:c.1373A>G, XM_005270562.1:c.1484A>G, XM_005270562.3:c.1484A>G, XM_005270563.1:c.1484A>G, XM_005270564.1:c.1484A>G, XM_006710397.2:c.1484A>G, XP_005270618.1:p.Asp458Gly, XP_005270619.1:p.Asp495Gly, XP_005270619.2:p.Asp495Gly, XP_005270620.1:p.Asp495Gly, XP_005270621.1:p.Asp495Gly, XP_006710460.1:p.Asp495Gly
T > C
SNP
D495G
No VIP available No Clinical Annotations available VA
rs112766203 NC_000001.10:g.97770835G>A, NC_000001.10:g.97770835G>C, NC_000001.11:g.97305279G>A, NC_000001.11:g.97305279G>C, NG_008807.2:g.620781C>G, NG_008807.2:g.620781C>T, NM_000110.3:c.2279C>G, NM_000110.3:c.2279C>T, NP_000101.2:p.Thr760Ile, NP_000101.2:p.Thr760Ser, NR_046590.1:n.129-910G>A, NR_046590.1:n.129-910G>C, XM_005270561.1:c.2168C>G, XM_005270561.1:c.2168C>T, XM_005270562.1:c.2063C>G, XM_005270562.1:c.2063C>T, XM_005270562.3:c.2063C>G, XM_005270562.3:c.2063C>T, XM_005270563.1:c.2279C>G, XM_005270563.1:c.2279C>T, XM_006710397.2:c.2279C>G, XM_006710397.2:c.2279C>T, XP_005270618.1:p.Thr723Ile, XP_005270618.1:p.Thr723Ser, XP_005270619.1:p.Thr688Ile, XP_005270619.1:p.Thr688Ser, XP_005270619.2:p.Thr688Ile, XP_005270619.2:p.Thr688Ser, XP_005270620.1:p.Thr760Ile, XP_005270620.1:p.Thr760Ser, XP_006710460.1:p.Thr760Ile, XP_006710460.1:p.Thr760Ser
G > A
G > C
SNP
T760I/S
No VIP available No Clinical Annotations available VA
rs114096998 NC_000001.10:g.97544543G>A, NC_000001.10:g.97544543G>C, NC_000001.10:g.97544543G>T, NC_000001.11:g.97078987G>A, NC_000001.11:g.97078987G>C, NC_000001.11:g.97078987G>T, NG_008807.2:g.847073C>A, NG_008807.2:g.847073C>G, NG_008807.2:g.847073C>T, NM_000110.3:c.3067C>A, NM_000110.3:c.3067C>G, NM_000110.3:c.3067C>T, NP_000101.2:p.Pro1023Ala, NP_000101.2:p.Pro1023Ser, NP_000101.2:p.Pro1023Thr, XM_005270561.1:c.2956C>A, XM_005270561.1:c.2956C>G, XM_005270561.1:c.2956C>T, XM_005270562.1:c.2851C>A, XM_005270562.1:c.2851C>G, XM_005270562.1:c.2851C>T, XM_005270562.3:c.2851C>A, XM_005270562.3:c.2851C>G, XM_005270562.3:c.2851C>T, XP_005270618.1:p.Pro986Ala, XP_005270618.1:p.Pro986Ser, XP_005270618.1:p.Pro986Thr, XP_005270619.1:p.Pro951Ala, XP_005270619.1:p.Pro951Ser, XP_005270619.1:p.Pro951Thr, XP_005270619.2:p.Pro951Ala, XP_005270619.2:p.Pro951Ser, XP_005270619.2:p.Pro951Thr, rs199469566
G > A
G > C
G > T
SNP
P1023A/S/T
No VIP available CA VA
rs115232898 NC_000001.10:g.98165030T>C, NC_000001.11:g.97699474T>C, NG_008807.2:g.226586A>G, NM_000110.3:c.557A>G, NP_000101.2:p.Tyr186Cys, XM_005270561.1:c.446A>G, XM_005270562.1:c.557A>G, XM_005270562.3:c.557A>G, XM_005270563.1:c.557A>G, XM_005270564.1:c.557A>G, XM_006710397.2:c.557A>G, XP_005270618.1:p.Tyr149Cys, XP_005270619.1:p.Tyr186Cys, XP_005270619.2:p.Tyr186Cys, XP_005270620.1:p.Tyr186Cys, XP_005270621.1:p.Tyr186Cys, XP_006710460.1:p.Tyr186Cys, rs199469520
T > C
SNP
Y186C
No VIP available No Clinical Annotations available VA
rs115349832
A > C
A > G
SNP
No VIP available CA VA
rs115632870 NC_000001.10:g.98293821C>T, NC_000001.11:g.97828265C>T, NG_008807.2:g.97795G>A, NM_000110.3:c.151-69G>A, NM_001160301.1:c.151-69G>A, XM_005270561.1:c.40-69G>A, XM_005270562.1:c.151-69G>A, XM_005270562.3:c.151-69G>A, XM_005270563.1:c.151-69G>A, XM_005270564.1:c.151-69G>A, XM_006710397.2:c.151-69G>A, rs199469511
C > T
SNP
No VIP available CA VA
rs12022243 NC_000001.10:g.97862780C>T, NC_000001.11:g.97397224C>T, NG_008807.2:g.528836G>A, NM_000110.3:c.1906-14763G>A, XM_005270561.1:c.1795-14763G>A, XM_005270562.1:c.1690-14763G>A, XM_005270562.3:c.1690-14763G>A, XM_005270563.1:c.1906-14763G>A, XM_006710397.2:c.1906-14763G>A
C > T
SNP
No VIP available CA VA
rs12132152 NC_000001.10:g.97523004G>A, NC_000001.11:g.97057448G>A, rs58172137
G > A
SNP
No VIP available No Clinical Annotations available VA
rs137999090 NC_000001.10:g.97839154C>T, NC_000001.11:g.97373598C>T, NG_008807.2:g.552462G>A, NM_000110.3:c.2021G>A, NP_000101.2:p.Gly674Asp, XM_005270561.1:c.1910G>A, XM_005270562.1:c.1805G>A, XM_005270562.3:c.1805G>A, XM_005270563.1:c.2021G>A, XM_006710397.2:c.2021G>A, XP_005270618.1:p.Gly637Asp, XP_005270619.1:p.Gly602Asp, XP_005270619.2:p.Gly602Asp, XP_005270620.1:p.Gly674Asp, XP_006710460.1:p.Gly674Asp, XR_947619.1:n.1125-1930C>T, XR_947620.1:n.1124+6397C>T, XR_947621.1:n.1125-1930C>T
C > T
SNP
G674D
No VIP available No Clinical Annotations available VA
rs138391898
C > T
SNP
V507I
No VIP available No Clinical Annotations available VA
rs138545885
C > A
SNP
A664S
No VIP available No Clinical Annotations available VA
rs138616379 NC_000001.10:g.97915745C>T, NC_000001.11:g.97450189C>T, NG_008807.2:g.475871G>A, NM_000110.3:c.1775G>A, NP_000101.2:p.Arg592Gln, XM_005270561.1:c.1664G>A, XM_005270562.1:c.1559G>A, XM_005270562.3:c.1559G>A, XM_005270563.1:c.1775G>A, XM_006710397.2:c.1775G>A, XP_005270618.1:p.Arg555Gln, XP_005270619.1:p.Arg520Gln, XP_005270619.2:p.Arg520Gln, XP_005270620.1:p.Arg592Gln, XP_006710460.1:p.Arg592Gln
C > T
SNP
R592Q
No VIP available No Clinical Annotations available VA
rs139459586
A > C
SNP
L993R
No VIP available No Clinical Annotations available VA
rs139834141
C > T
SNP
M166I
No VIP available No Clinical Annotations available VA
rs140114515
C > T
SNP
V1017I
No VIP available No Clinical Annotations available VA
rs140602333
G > A
G > T
SNP
R394R/W
No VIP available No Clinical Annotations available VA
rs141044036 NC_000001.10:g.97547921T>C, NC_000001.11:g.97082365T>C, NG_008807.2:g.843695A>G, NM_000110.3:c.2872A>G, NP_000101.2:p.Lys958Glu, XM_005270561.1:c.2761A>G, XM_005270562.1:c.2656A>G, XM_005270562.3:c.2656A>G, XP_005270618.1:p.Lys921Glu, XP_005270619.1:p.Lys886Glu, XP_005270619.2:p.Lys886Glu
T > C
SNP
K958E
No VIP available No Clinical Annotations available VA
rs141462178
T > C
SNP
M115V
No VIP available No Clinical Annotations available VA
rs142512579
C > T
SNP
D432N
No VIP available No Clinical Annotations available VA
rs142619737
C > G
C > T
SNP
G539R
No VIP available No Clinical Annotations available VA
rs143154602 NC_000001.10:g.98058845G>A, NC_000001.11:g.97593289G>A, NG_008807.2:g.332771C>T, NM_000110.3:c.1057C>T, NP_000101.2:p.Arg353Cys, XM_005270561.1:c.946C>T, XM_005270562.1:c.1057C>T, XM_005270562.3:c.1057C>T, XM_005270563.1:c.1057C>T, XM_005270564.1:c.1057C>T, XM_006710397.2:c.1057C>T, XP_005270618.1:p.Arg316Cys, XP_005270619.1:p.Arg353Cys, XP_005270619.2:p.Arg353Cys, XP_005270620.1:p.Arg353Cys, XP_005270621.1:p.Arg353Cys, XP_006710460.1:p.Arg353Cys
G > A
SNP
R353C
No VIP available No Clinical Annotations available VA
rs143815742
C > A
C > T
SNP
R394L/Q
No VIP available No Clinical Annotations available VA
rs143986398 NC_000001.10:g.98205995G>C, NC_000001.11:g.97740439G>C, NG_008807.2:g.185621C>G, NM_000110.3:c.274C>G, NM_001160301.1:c.274C>G, NP_000101.2:p.Pro92Ala, NP_001153773.1:p.Pro92Ala, XM_005270561.1:c.163C>G, XM_005270562.1:c.274C>G, XM_005270562.3:c.274C>G, XM_005270563.1:c.274C>G, XM_005270564.1:c.274C>G, XM_006710397.2:c.274C>G, XP_005270618.1:p.Pro55Ala, XP_005270619.1:p.Pro92Ala, XP_005270619.2:p.Pro92Ala, XP_005270620.1:p.Pro92Ala, XP_005270621.1:p.Pro92Ala, XP_006710460.1:p.Pro92Ala
G > C
SNP
P92A
No VIP available No Clinical Annotations available VA
rs144395748
G > C
G > T
SNP
P453R
No VIP available No Clinical Annotations available VA
rs145112791
G > A
SNP
L312F
No VIP available No Clinical Annotations available VA
rs145529148
T > C
SNP
Q972R
No VIP available No Clinical Annotations available VA
rs145548112
C > T
SNP
A721T
No VIP available No Clinical Annotations available VA
rs145773863 NC_000001.10:g.97915743C>T, NC_000001.11:g.97450187C>T, NG_008807.2:g.475873G>A, NM_000110.3:c.1777G>A, NP_000101.2:p.Gly593Arg, XM_005270561.1:c.1666G>A, XM_005270562.1:c.1561G>A, XM_005270562.3:c.1561G>A, XM_005270563.1:c.1777G>A, XM_006710397.2:c.1777G>A, XP_005270618.1:p.Gly556Arg, XP_005270619.1:p.Gly521Arg, XP_005270619.2:p.Gly521Arg, XP_005270620.1:p.Gly593Arg, XP_006710460.1:p.Gly593Arg
C > T
SNP
G593R
No VIP available No Clinical Annotations available VA
rs146356975 NC_000001.10:g.98060705T>C, NC_000001.11:g.97595149T>C, NG_008807.2:g.330911A>G, NM_000110.3:c.868A>G, NP_000101.2:p.Lys290Glu, XM_005270561.1:c.757A>G, XM_005270562.1:c.868A>G, XM_005270562.3:c.868A>G, XM_005270563.1:c.868A>G, XM_005270564.1:c.868A>G, XM_006710397.2:c.868A>G, XP_005270618.1:p.Lys253Glu, XP_005270619.1:p.Lys290Glu, XP_005270619.2:p.Lys290Glu, XP_005270620.1:p.Lys290Glu, XP_005270621.1:p.Lys290Glu, XP_006710460.1:p.Lys290Glu
T > C
SNP
K290E
No VIP available No Clinical Annotations available VA
rs146529561
G > A
SNP
A729V
No VIP available No Clinical Annotations available VA
rs147545709 NC_000001.10:g.97564155G>A, NC_000001.11:g.97098599G>A, NG_008807.2:g.827461C>T, NM_000110.3:c.2656C>T, NP_000101.2:p.Arg886Cys, NR_046590.1:n.64+2613G>A, XM_005270561.1:c.2545C>T, XM_005270562.1:c.2440C>T, XM_005270562.3:c.2440C>T, XP_005270618.1:p.Arg849Cys, XP_005270619.1:p.Arg814Cys, XP_005270619.2:p.Arg814Cys
G > A
SNP
R886C
No VIP available No Clinical Annotations available VA
rs147601618 NC_000001.10:g.97915724A>G, NC_000001.11:g.97450168A>G, NG_008807.2:g.475892T>C, NM_000110.3:c.1796T>C, NP_000101.2:p.Met599Thr, XM_005270561.1:c.1685T>C, XM_005270562.1:c.1580T>C, XM_005270562.3:c.1580T>C, XM_005270563.1:c.1796T>C, XM_006710397.2:c.1796T>C, XP_005270618.1:p.Met562Thr, XP_005270619.1:p.Met527Thr, XP_005270619.2:p.Met527Thr, XP_005270620.1:p.Met599Thr, XP_006710460.1:p.Met599Thr
A > G
SNP
M599T
No VIP available No Clinical Annotations available VA
rs148799944
C > G
SNP
V1021L
No VIP available No Clinical Annotations available VA
rs148994843
C > T
SNP
V515I
No VIP available No Clinical Annotations available VA
rs150036960
G > C
SNP
L16V
No VIP available No Clinical Annotations available VA
rs150385342
C > A
C > T
SNP
A105S
No VIP available No Clinical Annotations available VA
rs150437414
A > G
SNP
L310S
No VIP available No Clinical Annotations available VA
rs17116806 NC_000001.10:g.97973252C>A, NC_000001.11:g.97507696C>A, NG_008807.2:g.418364G>T, NM_000110.3:c.1740+8030G>T, XM_005270561.1:c.1629+8030G>T, XM_005270562.1:c.1524+41864G>T, XM_005270562.3:c.1524+41864G>T, XM_005270563.1:c.1740+8030G>T, XM_006710397.2:c.1740+8030G>T, rs59151739
C > A
SNP
No VIP available CA VA
rs17376848 NC_000001.10:g.97915624A>G, NC_000001.11:g.97450068A>G, NG_008807.2:g.475992T>C, NM_000110.3:c.1896T>C, NP_000101.2:p.Phe632=, XM_005270561.1:c.1785T>C, XM_005270562.1:c.1680T>C, XM_005270562.3:c.1680T>C, XM_005270563.1:c.1896T>C, XM_006710397.2:c.1896T>C, XP_005270618.1:p.Phe595=, XP_005270619.1:p.Phe560=, XP_005270619.2:p.Phe560=, XP_005270620.1:p.Phe632=, XP_006710460.1:p.Phe632=, rs117467766, rs52815410, rs58485702
A > G
SNP
F632F
No VIP available CA VA
rs1760217 NC_000001.10:g.97602994A>G, NC_000001.11:g.97137438A>G, NG_008807.2:g.788622T>C, NM_000110.3:c.2623-38806T>C, NR_046590.1:n.64+41452A>G, XM_005270561.1:c.2512-38806T>C, XM_005270562.1:c.2407-38806T>C, XM_005270562.3:c.2407-38806T>C, rs17472184, rs58395723
A > G
SNP
rs1801158 NC_000001.10:g.97981421C>T, NC_000001.11:g.97515865C>T, NG_008807.2:g.410195G>A, NM_000110.3:c.1601G>A, NP_000101.2:p.Ser534Asn, XM_005270561.1:c.1490G>A, XM_005270562.1:c.1524+33695G>A, XM_005270562.3:c.1524+33695G>A, XM_005270563.1:c.1601G>A, XM_005270564.1:c.1601G>A, XM_006710397.2:c.1601G>A, XP_005270618.1:p.Ser497Asn, XP_005270620.1:p.Ser534Asn, XP_005270621.1:p.Ser534Asn, XP_006710460.1:p.Ser534Asn, rs199469539, rs52824375, rs59516208
C > T
SNP
S534N
rs1801159 NC_000001.10:g.97981395T>C, NC_000001.11:g.97515839T>C, NG_008807.2:g.410221A>G, NM_000110.3:c.1627A>G, NP_000101.2:p.Ile543Val, XM_005270561.1:c.1516A>G, XM_005270562.1:c.1524+33721A>G, XM_005270562.3:c.1524+33721A>G, XM_005270563.1:c.1627A>G, XM_005270564.1:c.1627A>G, XM_006710397.2:c.1627A>G, XP_005270618.1:p.Ile506Val, XP_005270620.1:p.Ile543Val, XP_005270621.1:p.Ile543Val, XP_006710460.1:p.Ile543Val, rs117999026, rs17116825, rs199469541, rs386545620, rs58945530
T > C
SNP
I543V
rs1801160 NC_000001.10:g.97770920C>T, NC_000001.11:g.97305364C>T, NG_008807.2:g.620696G>A, NM_000110.3:c.2194G>A, NP_000101.2:p.Val732Ile, NR_046590.1:n.129-825C>T, XM_005270561.1:c.2083G>A, XM_005270562.1:c.1978G>A, XM_005270562.3:c.1978G>A, XM_005270563.1:c.2194G>A, XM_006710397.2:c.2194G>A, XP_005270618.1:p.Val695Ile, XP_005270619.1:p.Val660Ile, XP_005270619.2:p.Val660Ile, XP_005270620.1:p.Val732Ile, XP_006710460.1:p.Val732Ile, rs12720467, rs12720468, rs199469554
C > T
SNP
V732I
rs1801265 NC_000001.10:g.98348885G=, NC_000001.10:g.98348885G>A, NC_000001.11:g.97883329A=, NC_000001.11:g.97883329A>G, NG_008807.2:g.42731T=, NG_008807.2:g.42731T>C, NM_000110.3:c.85T=, NM_000110.3:c.85T>C, NM_001160301.1:c.85T=, NM_001160301.1:c.85T>C, NP_000101.2:p.Cys29=, NP_000101.2:p.Cys29Arg, NP_001153773.1:p.Cys29=, NP_001153773.1:p.Cys29Arg, XM_005270561.1:c.39+37555C>T, XM_005270561.1:c.39+37555T>C, XM_005270562.1:c.85C=, XM_005270562.1:c.85C>T, XM_005270562.3:c.85T=, XM_005270562.3:c.85T>C, XM_005270563.1:c.85C=, XM_005270563.1:c.85C>T, XM_005270564.1:c.85C=, XM_005270564.1:c.85C>T, XM_006710397.2:c.85T=, XM_006710397.2:c.85T>C, XP_005270619.1:p.Arg29=, XP_005270619.1:p.Arg29Cys, XP_005270619.2:p.Cys29=, XP_005270619.2:p.Cys29Arg, XP_005270620.1:p.Arg29=, XP_005270620.1:p.Arg29Cys, XP_005270621.1:p.Arg29=, XP_005270621.1:p.Arg29Cys, XP_006710460.1:p.Cys29=, XP_006710460.1:p.Cys29Arg, rs199469510, rs3211355, rs52823090, rs57596852
G > A
SNP
C29R
No VIP available CA VA
rs1801266 NC_000001.10:g.98157332G>A, NC_000001.11:g.97691776G>A, NG_008807.2:g.234284C>T, NM_000110.3:c.703C>T, NP_000101.2:p.Arg235Trp, XM_005270561.1:c.592C>T, XM_005270562.1:c.703C>T, XM_005270562.3:c.703C>T, XM_005270563.1:c.703C>T, XM_005270564.1:c.703C>T, XM_006710397.2:c.703C>T, XP_005270618.1:p.Arg198Trp, XP_005270619.1:p.Arg235Trp, XP_005270619.2:p.Arg235Trp, XP_005270620.1:p.Arg235Trp, XP_005270621.1:p.Arg235Trp, XP_006710460.1:p.Arg235Trp, rs386545627
G > A
SNP
R235W
No VIP available No Clinical Annotations available VA
rs1801267 NC_000001.10:g.97564154C>T, NC_000001.11:g.97098598C>T, NG_008807.2:g.827462G>A, NM_000110.3:c.2657G>A, NP_000101.2:p.Arg886His, NR_046590.1:n.64+2612C>T, XM_005270561.1:c.2546G>A, XM_005270562.1:c.2441G>A, XM_005270562.3:c.2441G>A, XP_005270618.1:p.Arg849His, XP_005270619.1:p.Arg814His, XP_005270619.2:p.Arg814His, rs386545628
C > T
SNP
R886H
No VIP available CA VA
rs1801268 NC_000001.10:g.97544627C>A, NC_000001.11:g.97079071C>A, NG_008807.2:g.846989G>T, NM_000110.3:c.2983G>T, NP_000101.2:p.Val995Phe, XM_005270561.1:c.2872G>T, XM_005270562.1:c.2767G>T, XM_005270562.3:c.2767G>T, XP_005270618.1:p.Val958Phe, XP_005270619.1:p.Val923Phe, XP_005270619.2:p.Val923Phe, rs386545629
C > A
SNP
V995F
No VIP available No Clinical Annotations available VA
rs183105782 NC_000001.10:g.98060663A>G, NC_000001.11:g.97595107A>G, NG_008807.2:g.330953T>C, NM_000110.3:c.910T>C, NP_000101.2:p.Tyr304His, XM_005270561.1:c.799T>C, XM_005270562.1:c.910T>C, XM_005270562.3:c.910T>C, XM_005270563.1:c.910T>C, XM_005270564.1:c.910T>C, XM_006710397.2:c.910T>C, XP_005270618.1:p.Tyr267His, XP_005270619.1:p.Tyr304His, XP_005270619.2:p.Tyr304His, XP_005270620.1:p.Tyr304His, XP_005270621.1:p.Tyr304His, XP_006710460.1:p.Tyr304His
A > G
SNP
Y304H
No VIP available No Clinical Annotations available VA
rs183385770 NC_000001.10:g.98058878C>T, NC_000001.11:g.97593322C>T, NG_008807.2:g.332738G>A, NM_000110.3:c.1024G>A, NP_000101.2:p.Asp342Asn, XM_005270561.1:c.913G>A, XM_005270562.1:c.1024G>A, XM_005270562.3:c.1024G>A, XM_005270563.1:c.1024G>A, XM_005270564.1:c.1024G>A, XM_006710397.2:c.1024G>A, XP_005270618.1:p.Asp305Asn, XP_005270619.1:p.Asp342Asn, XP_005270619.2:p.Asp342Asn, XP_005270620.1:p.Asp342Asn, XP_005270621.1:p.Asp342Asn, XP_006710460.1:p.Asp342Asn
C > T
SNP
D342N
No VIP available No Clinical Annotations available VA
rs186169810 NC_000001.10:g.98039341A>C, NC_000001.11:g.97573785A>C, NG_008807.2:g.352275T>G, NM_000110.3:c.1314T>G, NP_000101.2:p.Phe438Leu, XM_005270561.1:c.1203T>G, XM_005270562.1:c.1314T>G, XM_005270562.3:c.1314T>G, XM_005270563.1:c.1314T>G, XM_005270564.1:c.1314T>G, XM_006710397.2:c.1314T>G, XP_005270618.1:p.Phe401Leu, XP_005270619.1:p.Phe438Leu, XP_005270619.2:p.Phe438Leu, XP_005270620.1:p.Phe438Leu, XP_005270621.1:p.Phe438Leu, XP_006710460.1:p.Phe438Leu
A > C
SNP
F438L
No VIP available No Clinical Annotations available VA
rs188052243 NC_000001.10:g.97564133T>C, NC_000001.11:g.97098577T>C, NG_008807.2:g.827483A>G, NM_000110.3:c.2678A>G, NP_000101.2:p.Asn893Ser, NR_046590.1:n.64+2591T>C, XM_005270561.1:c.2567A>G, XM_005270562.1:c.2462A>G, XM_005270562.3:c.2462A>G, XP_005270618.1:p.Asn856Ser, XP_005270619.1:p.Asn821Ser, XP_005270619.2:p.Asn821Ser
T > C
SNP
N893S
No VIP available No Clinical Annotations available VA
rs190577302 NC_000001.10:g.98058848G>C, NC_000001.11:g.97593292G>C, NG_008807.2:g.332768C>G, NM_000110.3:c.1054C>G, NP_000101.2:p.Leu352Val, XM_005270561.1:c.943C>G, XM_005270562.1:c.1054C>G, XM_005270562.3:c.1054C>G, XM_005270563.1:c.1054C>G, XM_005270564.1:c.1054C>G, XM_006710397.2:c.1054C>G, XP_005270618.1:p.Leu315Val, XP_005270619.1:p.Leu352Val, XP_005270619.2:p.Leu352Val, XP_005270620.1:p.Leu352Val, XP_005270621.1:p.Leu352Val, XP_006710460.1:p.Leu352Val
G > C
SNP
L352V
No VIP available No Clinical Annotations available VA
rs190951787
G > C
SNP
T526S
No VIP available No Clinical Annotations available VA
rs199549923
G > T
SNP
T468N
No VIP available No Clinical Annotations available VA
rs199634007
G > T
SNP
T779N
No VIP available No Clinical Annotations available VA
rs200064537
A > T
SNP
N420K
No VIP available No Clinical Annotations available VA
rs200562975
T > C
SNP
N151D
No VIP available No Clinical Annotations available VA
rs200687447 NC_000001.10:g.97658765C>G, NC_000001.10:g.97658765C>T, NC_000001.11:g.97193209C>G, NC_000001.11:g.97193209C>T, NG_008807.2:g.732851G>A, NG_008807.2:g.732851G>C, NM_000110.3:c.2482G>A, NM_000110.3:c.2482G>C, NP_000101.2:p.Glu828Gln, NP_000101.2:p.Glu828Lys, NR_046590.1:n.65-72205C>G, NR_046590.1:n.65-72205C>T, XM_005270561.1:c.2371G>A, XM_005270561.1:c.2371G>C, XM_005270562.1:c.2266G>A, XM_005270562.1:c.2266G>C, XM_005270562.3:c.2266G>A, XM_005270562.3:c.2266G>C, XM_006710397.2:c.2482G>A, XM_006710397.2:c.2482G>C, XP_005270618.1:p.Glu791Gln, XP_005270618.1:p.Glu791Lys, XP_005270619.1:p.Glu756Gln, XP_005270619.1:p.Glu756Lys, XP_005270619.2:p.Glu756Gln, XP_005270619.2:p.Glu756Lys, XP_006710460.1:p.Glu828Gln, XP_006710460.1:p.Glu828Lys
C > G
C > T
SNP
E828K/Q
No VIP available No Clinical Annotations available VA
rs201018345
C > T
SNP
A323T
No VIP available No Clinical Annotations available VA
rs201035051
T > G
SNP
K875Q
No VIP available No Clinical Annotations available VA
rs201615754
C > A
C > T
SNP
R561L/Q
No VIP available No Clinical Annotations available VA
rs202144771
G > A
SNP
L993F
No VIP available CA VA
rs2297595 NC_000001.10:g.98165091T>C, NC_000001.11:g.97699535T>C, NG_008807.2:g.226525A>G, NM_000110.3:c.496A>G, NP_000101.2:p.Met166Val, XM_005270561.1:c.385A>G, XM_005270562.1:c.496A>G, XM_005270562.3:c.496A>G, XM_005270563.1:c.496A>G, XM_005270564.1:c.496A>G, XM_006710397.2:c.496A>G, XP_005270618.1:p.Met129Val, XP_005270619.1:p.Met166Val, XP_005270619.2:p.Met166Val, XP_005270620.1:p.Met166Val, XP_005270621.1:p.Met166Val, XP_006710460.1:p.Met166Val, rs118014431, rs199469517, rs52827192, rs61243782
T > C
SNP
M166V
No VIP available No Clinical Annotations available VA
rs2811178
T > C
SNP
No VIP available No Clinical Annotations available VA
rs367619008
T > C
SNP
K63E
No VIP available No Clinical Annotations available VA
rs376073289
C > A
C > T
SNP
R208L/Q
No VIP available No Clinical Annotations available VA
rs3918289
G > A
G > C
SNP
N635N
rs3918290 NC_000001.10:g.97915614C>T, NC_000001.11:g.97450058C>T, NG_008807.2:g.476002G>A, NM_000110.3:c.1905+1G>A, XM_005270561.1:c.1794+1G>A, XM_005270562.1:c.1689+1G>A, XM_005270562.3:c.1689+1G>A, XM_005270563.1:c.1905+1G>A, XM_006710397.2:c.1905+1G>A, rs199469548, rs386589337
C > G
C > T
SNP
No VIP available No Clinical Annotations available VA
rs45589337 NC_000001.10:g.98144726T>C, NC_000001.11:g.97679170T>C, NG_008807.2:g.246890A>G, NM_000110.3:c.775A>G, NP_000101.2:p.Lys259Glu, XM_005270561.1:c.664A>G, XM_005270562.1:c.775A>G, XM_005270562.3:c.775A>G, XM_005270563.1:c.775A>G, XM_005270564.1:c.775A>G, XM_006710397.2:c.775A>G, XP_005270618.1:p.Lys222Glu, XP_005270619.1:p.Lys259Glu, XP_005270619.2:p.Lys259Glu, XP_005270620.1:p.Lys259Glu, XP_005270621.1:p.Lys259Glu, XP_006710460.1:p.Lys259Glu, rs59034382
T > C
SNP
K259E
No VIP available No Clinical Annotations available VA
rs4970722 NC_000001.10:g.98352053A>T, NC_000001.11:g.97886497A>T, NG_008807.2:g.39563T>A, NM_000110.3:c.40-3123T>A, NM_001160301.1:c.40-3123T>A, XM_005270561.1:c.39+34387T>A, XM_005270562.1:c.40-3123T>A, XM_005270562.3:c.40-3123T>A, XM_005270563.1:c.40-3123T>A, XM_005270564.1:c.40-3123T>A, XM_006710397.2:c.40-3123T>A, rs56417891, rs60365769, rs61301156
A > T
SNP
No VIP available No Clinical Annotations available VA
rs55674432 NC_000001.10:g.97564172C>A, NC_000001.11:g.97098616C>A, NG_008807.2:g.827444G>T, NM_000110.3:c.2639G>T, NP_000101.2:p.Gly880Val, NR_046590.1:n.64+2630C>A, XM_005270561.1:c.2528G>T, XM_005270562.1:c.2423G>T, XM_005270562.3:c.2423G>T, XP_005270618.1:p.Gly843Val, XP_005270619.1:p.Gly808Val, XP_005270619.2:p.Gly808Val
C > A
SNP
G880V
No VIP available CA VA
rs55886062 NC_000001.10:g.97981343A>C, NC_000001.11:g.97515787A>C, NG_008807.2:g.410273T>G, NM_000110.3:c.1679T>G, NP_000101.2:p.Ile560Ser, XM_005270561.1:c.1568T>G, XM_005270562.1:c.1524+33773T>G, XM_005270562.3:c.1524+33773T>G, XM_005270563.1:c.1679T>G, XM_005270564.1:c.1679T>G, XM_006710397.2:c.1679T>G, XP_005270618.1:p.Ile523Ser, XP_005270620.1:p.Ile560Ser, XP_005270621.1:p.Ile560Ser, XP_006710460.1:p.Ile560Ser, rs199469542
A > C
SNP
I560S
No VIP available No Clinical Annotations available VA
rs55971861
T > G
SNP
I636L
No VIP available CA VA
rs56038477 NC_000001.10:g.98039419C>T, NC_000001.11:g.97573863C>T, NG_008807.2:g.352197G>A, NM_000110.3:c.1236G>A, NP_000101.2:p.Glu412=, XM_005270561.1:c.1125G>A, XM_005270562.1:c.1236G>A, XM_005270562.3:c.1236G>A, XM_005270563.1:c.1236G>A, XM_005270564.1:c.1236G>A, XM_006710397.2:c.1236G>A, XP_005270618.1:p.Glu375=, XP_005270619.1:p.Glu412=, XP_005270619.2:p.Glu412=, XP_005270620.1:p.Glu412=, XP_005270621.1:p.Glu412=, XP_006710460.1:p.Glu412=, rs199469533, rs61730901
C > T
SNP
E412E
No VIP available No Clinical Annotations available VA
rs56160474 NC_000001.10:g.97544258A>G, NC_000001.11:g.97078702A>G, NG_008807.2:g.847358T>C, NM_000110.3:c.*274T>C, XM_005270561.1:c.*274T>C, XM_005270562.1:c.*274T>C, XM_005270562.3:c.*274T>C
A > G
SNP
No VIP available No Clinical Annotations available VA
rs56276561
C > T
SNP
No VIP available No Clinical Annotations available VA
rs56293913
A > G
SNP
No VIP available No Clinical Annotations available VA
rs568132506
G > A
SNP
P86L
No VIP available No Clinical Annotations available VA
rs59086055 NC_000001.10:g.97915746G>A, NC_000001.11:g.97450190G>A, NG_008807.2:g.475870C>T, NM_000110.3:c.1774C>T, NP_000101.2:p.Arg592Trp, XM_005270561.1:c.1663C>T, XM_005270562.1:c.1558C>T, XM_005270562.3:c.1558C>T, XM_005270563.1:c.1774C>T, XM_006710397.2:c.1774C>T, XP_005270618.1:p.Arg555Trp, XP_005270619.1:p.Arg520Trp, XP_005270619.2:p.Arg520Trp, XP_005270620.1:p.Arg592Trp, XP_006710460.1:p.Arg592Trp
G > A
SNP
R592W
No VIP available No Clinical Annotations available VA
rs60139309 NC_000001.10:g.97658665T>C, NC_000001.11:g.97193109T>C, NG_008807.2:g.732951A>G, NM_000110.3:c.2582A>G, NP_000101.2:p.Lys861Arg, NR_046590.1:n.65-72305T>C, XM_005270561.1:c.2471A>G, XM_005270562.1:c.2366A>G, XM_005270562.3:c.2366A>G, XM_006710397.2:c.2582A>G, XP_005270618.1:p.Lys824Arg, XP_005270619.1:p.Lys789Arg, XP_005270619.2:p.Lys789Arg, XP_006710460.1:p.Lys861Arg, rs61730905
T > C
SNP
K861R
No VIP available No Clinical Annotations available VA
rs60511679
A > C
SNP
V732G
No VIP available No Clinical Annotations available VA
rs61622928
C > T
SNP
M406I
No VIP available No Clinical Annotations available VA
rs61757362 NC_000001.10:g.97544662G>A, NC_000001.11:g.97079106G>A, NG_008807.2:g.846954C>T, NM_000110.3:c.2948C>T, NP_000101.2:p.Thr983Ile, XM_005270561.1:c.2837C>T, XM_005270562.1:c.2732C>T, XM_005270562.3:c.2732C>T, XP_005270618.1:p.Thr946Ile, XP_005270619.1:p.Thr911Ile, XP_005270619.2:p.Thr911Ile
G > A
SNP
T983I
No VIP available No Clinical Annotations available VA
rs6668296
C > T
SNP
No VIP available CA VA
rs67376798 NC_000001.10:g.97547947T>A, NC_000001.11:g.97082391T>A, NG_008807.2:g.843669A>T, NM_000110.3:c.2846A>T, NP_000101.2:p.Asp949Val, XM_005270561.1:c.2735A>T, XM_005270562.1:c.2630A>T, XM_005270562.3:c.2630A>T, XP_005270618.1:p.Asp912Val, XP_005270619.1:p.Asp877Val, XP_005270619.2:p.Asp877Val, rs199469564, rs386467430, rs67376799
T > A
SNP
D949V
No VIP available No Clinical Annotations available VA
rs72547601 NC_000001.10:g.97544677T>C, NC_000001.11:g.97079121T>C, NG_008807.2:g.846939A>G, NM_000110.3:c.2933A>G, NP_000101.2:p.His978Arg, XM_005270561.1:c.2822A>G, XM_005270562.1:c.2717A>G, XM_005270562.3:c.2717A>G, XP_005270618.1:p.His941Arg, XP_005270619.1:p.His906Arg, XP_005270619.2:p.His906Arg
T > C
SNP
H978R
No VIP available No Clinical Annotations available VA
rs72547602
T > A
SNP
D974V
rs72549303 NC_000001.10:g.97915622delG, NC_000001.11:g.97450066delG, NG_008807.2:g.475994delC, NM_000110.3:c.1898delC, NP_000101.2:p.Pro633Glnfs, XM_005270561.1:c.1787delC, XM_005270562.1:c.1682delC, XM_005270562.3:c.1682delC, XM_005270563.1:c.1898delC, XM_006710397.2:c.1898delC, XP_005270618.1:p.Pro596Glnfs, XP_005270619.1:p.Pro561Glnfs, XP_005270619.2:p.Pro561Glnfs, XP_005270620.1:p.Pro633Glnfs, XP_006710460.1:p.Pro633Glnfs
G > -
G > G
indel
P633Q
No VIP available No Clinical Annotations available VA
rs72549304 NC_000001.10:g.98015165G>A, NC_000001.11:g.97549609G>A, NG_008807.2:g.376451C>T, NM_000110.3:c.1475C>T, NP_000101.2:p.Ser492Leu, XM_005270561.1:c.1364C>T, XM_005270562.1:c.1475C>T, XM_005270562.3:c.1475C>T, XM_005270563.1:c.1475C>T, XM_005270564.1:c.1475C>T, XM_006710397.2:c.1475C>T, XP_005270618.1:p.Ser455Leu, XP_005270619.1:p.Ser492Leu, XP_005270619.2:p.Ser492Leu, XP_005270620.1:p.Ser492Leu, XP_005270621.1:p.Ser492Leu, XP_006710460.1:p.Ser492Leu
G > A
SNP
S492L
No VIP available No Clinical Annotations available VA
rs72549305
T > C
SNP
I370V
No VIP available CA VA
rs72549306 NC_000001.10:g.98058899C>A, NC_000001.11:g.97593343C>A, NG_008807.2:g.332717G>T, NM_000110.3:c.1003G>T, NP_000101.2:p.Val335Leu, XM_005270561.1:c.892G>T, XM_005270562.1:c.1003G>T, XM_005270562.3:c.1003G>T, XM_005270563.1:c.1003G>T, XM_005270564.1:c.1003G>T, XM_006710397.2:c.1003G>T, XP_005270618.1:p.Val298Leu, XP_005270619.1:p.Val335Leu, XP_005270619.2:p.Val335Leu, XP_005270620.1:p.Val335Leu, XP_005270621.1:p.Val335Leu, XP_006710460.1:p.Val335Leu
C > A
SNP
V335L
No VIP available No Clinical Annotations available VA
rs72549307 NC_000001.10:g.98164955T>C, NC_000001.11:g.97699399T>C, NG_008807.2:g.226661A>G, NM_000110.3:c.632A>G, NP_000101.2:p.Tyr211Cys, XM_005270561.1:c.521A>G, XM_005270562.1:c.632A>G, XM_005270562.3:c.632A>G, XM_005270563.1:c.632A>G, XM_005270564.1:c.632A>G, XM_006710397.2:c.632A>G, XP_005270618.1:p.Tyr174Cys, XP_005270619.1:p.Tyr211Cys, XP_005270619.2:p.Tyr211Cys, XP_005270620.1:p.Tyr211Cys, XP_005270621.1:p.Tyr211Cys, XP_006710460.1:p.Tyr211Cys
T > C
SNP
Y211C
No VIP available No Clinical Annotations available VA
rs72549308 NC_000001.10:g.98164986T>G, NC_000001.11:g.97699430T>G, NG_008807.2:g.226630A>C, NM_000110.3:c.601A>C, NP_000101.2:p.Ser201Arg, XM_005270561.1:c.490A>C, XM_005270562.1:c.601A>C, XM_005270562.3:c.601A>C, XM_005270563.1:c.601A>C, XM_005270564.1:c.601A>C, XM_006710397.2:c.601A>C, XP_005270618.1:p.Ser164Arg, XP_005270619.1:p.Ser201Arg, XP_005270619.2:p.Ser201Arg, XP_005270620.1:p.Ser201Arg, XP_005270621.1:p.Ser201Arg, XP_006710460.1:p.Ser201Arg
T > G
SNP
S201R
No VIP available CA VA
rs72549309 NC_000001.10:g.98205971_98205974delATGA, NC_000001.11:g.97740415_97740418delATGA, NG_008807.2:g.185642_185645delTCAT, NM_000110.3:c.295_298delTCAT, NM_001160301.1:c.295_298delTCAT, NP_000101.2:p.Phe100Serfs, NP_001153773.1:p.Phe100Serfs, XM_005270561.1:c.184_187delTCAT, XM_005270562.1:c.295_298delTCAT, XM_005270562.3:c.295_298delTCAT, XM_005270563.1:c.295_298delTCAT, XM_005270564.1:c.295_298delTCAT, XM_006710397.2:c.295_298delTCAT, XP_005270618.1:p.Phe63Serfs, XP_005270619.1:p.Phe100Serfs, XP_005270619.2:p.Phe100Serfs, XP_005270620.1:p.Phe100Serfs, XP_005270621.1:p.Phe100Serfs, XP_006710460.1:p.Phe100Serfs
ATGA > -
indel
F100S
No VIP available No Clinical Annotations available VA
rs72549310
G > A
SNP
R21*
No VIP available CA VA
rs72728438 NC_000001.10:g.97847874T>C, NC_000001.11:g.97382318T>C, NG_008807.2:g.543742A>G, NM_000110.3:c.1974+75A>G, XM_005270561.1:c.1863+75A>G, XM_005270562.1:c.1758+75A>G, XM_005270562.3:c.1758+75A>G, XM_005270563.1:c.1974+75A>G, XM_006710397.2:c.1974+75A>G, XR_947619.1:n.1347-1316T>C, XR_947620.1:n.1125-1316T>C, XR_947621.1:n.1347-1316T>C, rs199469549, rs74105154
T > C
SNP
No VIP available No Clinical Annotations available VA
rs72975710
G > A
G > C
SNP
A450V
No VIP available CA VA
rs75017182 NC_000001.10:g.98045449G>C, NC_000001.11:g.97579893G>C, NG_008807.2:g.346167C>G, NM_000110.3:c.1129-5923C>G, XM_005270561.1:c.1018-5923C>G, XM_005270562.1:c.1129-5923C>G, XM_005270562.3:c.1129-5923C>G, XM_005270563.1:c.1129-5923C>G, XM_005270564.1:c.1129-5923C>G, XM_006710397.2:c.1129-5923C>G
G > C
SNP
No VIP available No Clinical Annotations available VA
rs7548189 NC_000001.10:g.97867713C>A, NC_000001.11:g.97402157C>A, NG_008807.2:g.523903G>T, NM_000110.3:c.1906-19696G>T, XM_005270561.1:c.1795-19696G>T, XM_005270562.1:c.1690-19696G>T, XM_005270562.3:c.1690-19696G>T, XM_005270563.1:c.1906-19696G>T, XM_006710397.2:c.1906-19696G>T, rs17600129, rs59836182
C > A
SNP
No VIP available CA VA
rs76387818 NC_000001.10:g.97539400G>A, NC_000001.11:g.97073844G>A
G > A
SNP
No VIP available No Clinical Annotations available VA
rs777425216
C > A
C > T
SNP
A551S/T
No VIP available No Clinical Annotations available VA
rs78060119 NC_000001.10:g.98039499C>A, NC_000001.11:g.97573943C>A, NG_008807.2:g.352117G>T, NM_000110.3:c.1156G>T, NP_000101.2:p.Glu386Ter, XM_005270561.1:c.1045G>T, XM_005270562.1:c.1156G>T, XM_005270562.3:c.1156G>T, XM_005270563.1:c.1156G>T, XM_005270564.1:c.1156G>T, XM_006710397.2:c.1156G>T, XP_005270618.1:p.Glu349Ter, XP_005270619.1:p.Glu386Ter, XP_005270619.2:p.Glu386Ter, XP_005270620.1:p.Glu386Ter, XP_005270621.1:p.Glu386Ter, XP_006710460.1:p.Glu386Ter, rs386508634
C > A
SNP
E386*
No VIP available No Clinical Annotations available VA
rs80081766 NC_000001.10:g.98348908C>T, NC_000001.11:g.97883352C>T, NG_008807.2:g.42708G>A, NM_000110.3:c.62G>A, NM_001160301.1:c.62G>A, NP_000101.2:p.Arg21Gln, NP_001153773.1:p.Arg21Gln, XM_005270561.1:c.39+37532G>A, XM_005270562.1:c.62G>A, XM_005270562.3:c.62G>A, XM_005270563.1:c.62G>A, XM_005270564.1:c.62G>A, XM_006710397.2:c.62G>A, XP_005270619.1:p.Arg21Gln, XP_005270619.2:p.Arg21Gln, XP_005270620.1:p.Arg21Gln, XP_005270621.1:p.Arg21Gln, XP_006710460.1:p.Arg21Gln, rs386508633
C > T
SNP
R21Q
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  None
Alternate Symbols:  DPD
PharmGKB Accession Id: PA145

Details

Cytogenetic Location: chr1 : p21.3 - p21.3
GP mRNA Boundary: chr1 : 97543299 - 98386615
GP Gene Boundary: chr1 : 97540299 - 98396615
Strand: minus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

Note: The DPYD gene is found on the minus chromosomal strand. Please note that for standardization, the PharmGKB presents all allele base pairs on the positive chromosomal strand; therefore the alleles within our variant annotations will differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.

Background

DPYD is the initial and rate limiting enzyme in the three step pathway of uracil and thymidine catabolism and the pathway leading to the formation of beta-alanine. The DPYD protein is responsible for degrading fluoropyrimidines, such as 5-fluorouracil [Article:12164772], capecitabine [Article:15944764], and tegafur [Article:11081569] (see the fluoropyrimidine PK pathway for a diagrammatic representation). Decreased DPYD activity is associated with a greater than four-fold risk of severe or fatal toxicity from standard doses of 5FU [Article:10071185]. Details of specific DPYD variants and their effect on fluoropyrimidine response are discussed below.
Complete DPYD inactivation results in DPYD deficiency with symptoms including epilepsy, motor and mental retardation, and increased urinary levels of uracil and thymine [Article:10071185]. Altered homeostasis of beta-alanine, a structural analog of major inhibitory neurotransmitters gamma-aminobutyric acid (GABA) and glycine, may cause the disturbances in the central nervous system that occur with DPYD deficiency [Article:10071185]. DPYD deficiency is caused by homozygous inactivation of DPYD; heterozygotes tend to be asymptomatic unless challenged, for example by treatment with fluoropyrimidines [Article:10071185].

DPYD gene and regulation

In 1994, Yokota et al. mapped DPYD to the centromeric region of human chromosome 1 between 1p22 and 1q21 [Article:8083224]. Later in 1994 Takai et al. assigned the gene to 1p22 [Article:7713523]. DPYD is expressed in many cell types throughout the body, with liver and peripheral blood being the major sites [Article:3752956]. The gene consists of 23 exons spanning 950kb, resulting in 4399 nucleotides encoding a 1025 amino acid protein. [Articles:8083224, 9721209]
The DPYD gene promoter was mapped in 2000 and several putative transcription factor binding sites were identified including a gamma-interferon responsive element, PEA3, HNF-4, HNF-1 and C/EBP sites [Article:10777676]. The proximal -121bp is sufficient for constitutive activity in Hela and HEK293 cells with transcription factors Sp1 and Sp3 as the transcriptional activators [Articles:11072080, 16806531]. Expression can be induced by phorbol myristate acetate via an AP-1 site between -280 and -290 [Article:15705907]. NSAIDs also appear to have an effect on DPYD expression, and may synergize the effect of 5FU treatment in vivo [Article:19830428].

The DPYD promoter contains several CpG islands and methylation at these locations can regulate transcription in HepG2 cell lines [Article:15501990]. However, methylation differences did not correlate with DPYD mRNA levels in tumor cells [Articles:16778115, 18813836] and is not predictive of 5FU toxicity [Articles:18937829, 20809970].

MicroRNA (miRNA) binding has been shown to negatively regulate expression of DPYD protein [Article:22306127]. Lung tumor samples and cell lines with low expression of the miRNAs miR-27b (MIR27B) and miR-134 (MIR134) had high expression of DPYD protein potentially increasing metabolism of fluoropyrimidines and reducing toxicity or increasing resistance although this has yet to be validated [Article:22306127].

DPYD variation

Patients with less than 70% of the mean observed DPYD protein activity in the normal population are considered at risk for the development of severe toxicity after 5-FU administration PMD: 12209976. Approximately 3-5% of Caucasians have partial DPYD deficiency and 0.2% have complete DPYD deficiency [Article:17121937]. Variation in DPYD protein activity due to gender or race has been investigated although is somewhat contradictory.
Early studies of DPYD protein activity in Caucasians showed no difference between genders or smokers and non-smokers [Article:9723824]. Other studies have shown decreased DPYD activity in women [Articles:7964939, 10027340], with this more pronounced in African Americans than Caucasians [Article:17000684]. African Americans have decreased DPD enzyme activity compared with Caucasians in both sexes [Articles:17000684, 23588312]. Clearance of flurouracil is also decreased in women compared to men [Article:1607921]. Several studies showed increased numbers of women compared to men among patients with fluorouracil toxicity [Articles:11896096, 12209976, 18299612], although in one study this was not significant when excluding patients with breast cancer [Article:12209976]. In one of the largest studies of DPYD variants and fluorouracil toxicity, the variant DPYD was associated with increased risk for toxicity only in males [Article:18299612]. Disease and treatment regimens (which are also related to disease background; breast cancer patients tend to receive bolus fluorouracil whereas colorectal cancer patients tend to receive infusion fluorouracil) may also influence DPYD activity and risk for toxicity.

Several genotypes and haplotypes have been associated with low DPYD activity and fluoruracil toxicity. (These are discussed further with respect to the individual variants).

DPYD and fluoropyrimidine response

DPYD is involved in the metabolism of all the fluoropyrimidines. The oral administration of fluorouracil itself is not feasible due to the high activity of DPYD in the gut wall, which causes rapid metabolism of the drug, and results in decreased and erratic absorption and non-linear pharmacokinetics. Fluorouracil is given by bolus or continuous intravenous infusion or as oral prodrugs such as capecitabine and tegafur. Leukovorin is often given in combination with fluorouracil to stabilize binding of drug metabolite fluorodeoxyuridine monophosphate to TYMS and improve efficacy. Other combinations include enzyme inhibitors such as S-1 which consists of tegafur and two enzyme inhibitors (CDHP 5-chloro-2,4-dihydroxypyridine and OXO, potassium oxonate)[Article:15075664]
Fluorouracil can be given as bolus or continuous infusion. It appears that this influences the flux through different parts of the pharmacokinetic and pharmacodynamic pathways of flurouracil. Bolus treatment results in greater RNA damage whereas continuous treatment results in greater DNA damage [Articles:19383847, 8996164]. Bolus treatment is also associated with higher rates of grade III-IV toxicity [Article:18299612].
Very few studies have examined the role of DPYD variants in efficacy of fluoropyrimidines. A small study of patients with gastric cancer treated with tegafur showed improved survival for those with the *5 allele [Article:18537153]. A study of pancreatic cancer where a portion of the patients were treated with capecitabine, showed decreased survival for those with the AA or AG genotype at rs1760217 [Article:21487324].
There have been several studies of DPYD expression level and response to fluoropyrimidines and low DPYD expression was associated with improved chemotherapy responses [Articles:10778957, 17611699]

Citation
M. Whirl-Carrillo, E.M. McDonagh, J. M. Hebert, L. Gong, K. Sangkuhl, C.F. Thorn, R.B. Altman and T.E. Klein. "Pharmacogenomics Knowledge for Personalized Medicine" Clinical Pharmacology & Therapeutics (2012) 92(4): 414-417. Full text
History

Submitted by Derek Van Booven, Howard McLeod (CREATE)

Updated by Caroline F. Thorn (08/01/2013).

Key Publications
  1. Correlations between antitumor activities of fluoropyrimidines and DPD activity in lung tumor xenografts. Oncology reports. 2005. Takechi Teiji, Okabe Hiroyuki, Ikeda Kazumasa, Fujioka Akio, Nakagawa Fumio, Ohshimo Hideyuki, Kitazato Kenji, Fukushima Masakazu. PubMed
  2. Implications of dihydropyrimidine dehydrogenase on 5-fluorouracil pharmacogenetics and pharmacogenomics. Pharmacogenomics. 2002. Mattison Lori K, Soong Richie, Diasio Robert B. PubMed
  3. The tegafur-based dihydropyrimidine dehydrogenase inhibitory fluoropyrimidines, UFT/leucovorin (ORZEL) and S-1: a review of their clinical development and therapeutic potential. Investigational new drugs. 2000. Hoff P M. PubMed
  4. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Human genetics. 1999. Van Kuilenburg A B, Vreken P, Abeling N G, Bakker H D, Meinsma R, Van Lenthe H, De Abreu R A, Smeitink J A, Kayserili H, Apak M Y, Christensen E, Holopainen I, Pulkki K, Riva D, Botteon G, Holme E, Tulinius M, Kleijer W J, Beemer F A, Duran M, Niezen-Koning K E, Smit G P, Jakobs C, Smit L M, Van Gennip A H. PubMed
  5. Nomenclature for human DPYD alleles. Pharmacogenetics. 1998. McLeod H L, Collie-Duguid E S, Vreken P, Johnson M R, Wei X, Sapone A, Diasio R B, Fernandez-Salguero P, van Kuilenberg A B, van Gennip A H, Gonzalez F J. PubMed
  6. Assignment of the human dihydropyrimidine dehydrogenase gene (DPYD) to chromosome region 1p22 by fluorescence in situ hybridization. Genomics. 1994. Takai S, Fernandez-Salguero P, Kimura S, Gonzalez F J, Yamada K. PubMed
  7. cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-fluorouracil toxicity and congenital thymine uraciluria. The Journal of biological chemistry. 1994. Yokota H, Fernandez-Salguero P, Furuya H, Lin K, McBride O W, Podschun B, Schnackerz K D, Gonzalez F J. PubMed
Variant Summaries rs1801158, rs1801159, rs1801160, rs1801265, rs3918290, rs72549303
Haplotype Summaries DPYD*9B
Drugs
Pathways

Haplotype Overview

Haplotypes for *2A - *10 were extracted from the nomenclature paper [Article:9918128] additional haplotypes are described in [Article:11875367] for *11 and *12 and [Article:11895907] for *13.

Source: PharmGKB

All alleles in the download file are on the positive chromosomal strand. PharmGKB considers the first haplotype listed in each table as the reference haplotype for that set.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Fluoropyrimidine Pathway, Pharmacokinetics
    Representation of the metabolic pathways for fluoropyrimidines.
No related genes are available

Curated Information ?

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
5-fluorouracil associated toxicity
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Arrhythmias, Cardiac
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Arthritis, Rheumatoid
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Atrial Fibrillation
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Attention Deficit Disorder with Hyperactivity
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Autism Spectrum Disorder
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Autistic Disorder
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Bipolar Disorder
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Breast Neoplasms
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Carcinoma, Hepatocellular
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Carcinoma, Non-Small-Cell Lung
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Carcinoma, Renal Cell
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Colonic Neoplasms
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Colorectal Neoplasms
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Crohn Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Death
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Depression
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Diarrhea
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Drug Toxicity
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Ectropion
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Epilepsy
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
epithelial cancers
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Esophageal Neoplasms
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Esophagitis
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Esophogeal Neoplasms
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
event-free survival
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
gastroesophageal cancer
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Gastrointestinal Neoplasms
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Gastrointestinal Stromal Tumors
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
gastrointestinal toxicity
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
hand-foot syndrome
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Head and Neck Neoplasms
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Heart Failure
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HIV Infections
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Hyperammonemia
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Hypercholesterolemia
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Hypereosinophilic Syndrome
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Hyperlipoproteinemia Type II
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Hypertension
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Infection
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Inflammatory Bowel Diseases
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Intestinal Neoplasms
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Leukemia
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Leukemia, Lymphocytic, Chronic, B-Cell
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Leukemia, Myeloid, Acute
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Leukemia, Nonlymphocytic, Acute
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Leukemia, Promyelocytic, Acute
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Leukopenia
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Lung Neoplasms
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Lymphoma, Non-Hodgkin
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Malaria
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Mental Retardation
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Metabolic Diseases
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Metabolism, Inborn Errors
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
mucositis
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Mycoses
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Myelodysplastic Syndromes
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Myelosuppression
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Nausea
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Neoplasm Metastasis
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Neoplasms
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
nephrotoxicity
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Neurotoxicity Syndromes
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Neutropenia
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Ocular Hypertension
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overall survival
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Pain
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Pancreatic Neoplasms
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Photophobia
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Precursor Cell Lymphoblastic Leukemia-Lymphoma
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progression-free survival
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Pulmonary Disease, Chronic Obstructive
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Pulmonary Fibrosis
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Purine-Pyrimidine Metabolism, Inborn Errors
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Rectal Neoplasms
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Schizophrenia
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Seizures
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Sjogren's Syndrome
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Stomach Neoplasms
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Stomatitis
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Stroke
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Thrombocytopenia
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Thromboembolism
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Toxic liver disease
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Tuberculosis, Pulmonary
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Tumor Lysis Syndrome
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Unspecified conjunctivitis
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Urinary Incontinence
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Vomiting

Publications related to DPYD: 158

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Lethal 5-fluorouracil toxicity in a colorectal patient with severe dihydropyrimidine dehydrogenase (DPD) deficiency. International journal of colorectal disease. 2016. Dhelens Carole, et al. PubMed
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Fluoropyrimidine and platinum toxicity pharmacogenetics: an umbrella review of systematic reviews and meta-analyses. Pharmacogenomics. 2016. Campbell Jared M, et al. PubMed
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DPYD gene polymorphisms are associated with risk and chemotherapy prognosis in pediatric patients with acute lymphoblastic leukemia. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine. 2016. Zhao Xiao-Qiang, et al. PubMed
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Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene. Biochimica et biophysica acta. 2016. Kuilenburg André B P van, et al. PubMed
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DPYD Genotyping to Predict Adverse Events Following Treatment With Flourouracil-Based Adjuvant Chemotherapy in Patients With Stage III Colon Cancer: A Secondary Analysis of the PETACC-8 Randomized Clinical Trial. JAMA oncology. 2016. Boige Valérie, et al. PubMed
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Uncommon dihydropyrimidine dehydrogenase mutations and toxicity by fluoropyrimidines: a lethal case with a new variant. Pharmacogenomics. 2016. Del Re Marzia, et al. PubMed
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Clinical validity of a DPYD-based pharmacogenetic test to predict severe toxicity to fluoropyrimidines. International journal of cancer. Journal international du cancer. 2015. Toffoli Giuseppe, et al. PubMed
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Association between DPYD c.1129-5923 C>G/hapB3 and severe toxicity to 5-fluorouracil-based chemotherapy in stage III colon cancer patients: NCCTG N0147 (Alliance). Pharmacogenetics and genomics. 2015. Lee Adam M, et al. PubMed
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Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data. The Lancet. Oncology. 2015. Meulendijks Didier, et al. PubMed
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Upfront Genotyping of DPYD*2A to Individualize Fluoropyrimidine Therapy: A Safety and Cost Analysis. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2015. Deenen Maarten J, et al. PubMed
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Beating the odds: efficacy and toxicity of DPD-driven adaptive dosing of 5-FU in patients with digestive cancer. British journal of clinical pharmacology. 2015. Launay Manon, et al. PubMed
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Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio. Clinical pharmacology and therapeutics. 2015. Thomas F, et al. PubMed
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Translating DPYD genotype into DPD phenotype: using the DPYD gene activity score. Pharmacogenomics. 2015. Henricks Linda M, et al. PubMed
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Genotype-phenotype correlations in 5-fluorouracil metabolism: a candidate DPYD haplotype to improve toxicity prediction. The pharmacogenomics journal. 2015. Gentile G, et al. PubMed
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Polymorphisms in MIR27A Associated with Early-Onset Toxicity in Fluoropyrimidine-Based Chemotherapy. Clinical cancer research : an official journal of the American Association for Cancer Research. 2015. Amstutz Ursula, et al. PubMed
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DPD and UGT1A1 deficiency in colorectal cancer patients receiving triplet chemotherapy with fluoropyrimidines, oxaliplatin and irinotecan. British journal of clinical pharmacology. 2015. Falvella Felicia Stefania, et al. PubMed
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Germline TYMS genotype is highly predictive in patients with metastatic gastrointestinal malignancies receiving capecitabine-based chemotherapy. Cancer chemotherapy and pharmacology. 2015. Joerger M, et al. PubMed
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Dihydropyrimidine dehydrogenase 85T>C mutation is associated with ocular toxicity of 5-fluorouracil: a case report. American journal of therapeutics. 2015. Baskin Yasemin, et al. PubMed
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DPYD Variants as Predictors of 5-fluorouracil Toxicity in Adjuvant Colon Cancer Treatment (NCCTG N0147). Journal of the National Cancer Institute. 2014. Lee Adam M, et al. PubMed
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Discovery of novel mutations in the dihydropyrimidine dehydrogenase gene associated with toxicity of fluoropyrimidines and viewpoint on preemptive pharmacogenetic screening in patients. The EPMA journal. 2015. Del Re Marzia, et al. PubMed
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Clinical importance of risk variants in the dihydropyrimidine dehydrogenase gene for the prediction of early-onset fluoropyrimidine toxicity. International journal of cancer. Journal international du cancer. 2014. Froehlich Tanja K, et al. PubMed
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Development of a broad-based ADME panel for use in pharmacogenomic studies. Pharmacogenomics. 2014. Brown Andrew Mk, et al. PubMed
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Comparative Functional Analysis of DPYD Variants of Potential Clinical Relevance to Dihydropyrimidine Dehydrogenase Activity. Cancer research. 2014. Offer Steven M, et al. PubMed
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The role of IVS14+1 G > A genotype detection in the dihydropyrimidine dehydrogenase gene and pharmacokinetic monitoring of 5-fluorouracil in the individualized adjustment of 5-fluorouracil for patients with local advanced and metastatic colorectal cancer: a preliminary report. European review for medical and pharmacological sciences. 2014. Cai X, et al. PubMed
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A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS. Gut. 2014. Rosmarin Dan, et al. PubMed
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Genetic Markers of Toxicity From Capecitabine and Other Fluorouracil-Based Regimens: Investigation in the QUASAR2 Study, Systematic Review, and Meta-Analysis. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2014. Rosmarin Dan, et al. PubMed
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A Case of 5-FU-Related Severe Toxicity Associated with the p.Y186C DPYD Variant. Clinical pharmacology and therapeutics. 2014. Zaanan A, et al. PubMed
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Response to "A Case of 5-FU-Related Severe Toxicity Associated With the P.Y186C DPYD Variant". Clinical pharmacology and therapeutics. 2014. Offer S M, et al. PubMed
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EMA Initiatives and Perspectives on Pharmacogenomics. British journal of clinical pharmacology. 2014. Ehmann Falk, et al. PubMed
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A DPYD variant (Y186C) specific to individuals of African descent in a patient with life-threatening 5-FU toxic effects: potential for an individualized medicine approach. Mayo Clinic proceedings. 2014. Saif Muhammad Wasif, et al. PubMed
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A rare cause of susceptibility to neutropenic sepsis in a patient with metastatic pancreas cancer. BMJ case reports. 2014. Suarez Martinez-Falero Beatriz, et al. PubMed
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Potential of dihydropyrimidine dehydrogenase genotypes in personalizing 5-fluorouracil therapy among colorectal cancer patients. Therapeutic drug monitoring. 2013. Teh Lay Kek, et al. PubMed
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Clinical Pharmacogenetics Implementation Consortium Guidelines for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing. Clinical pharmacology and therapeutics. 2013. Caudle Kelly E, et al. PubMed
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DPYD IVS14+1G>A and 2846A>T genotyping for the prediction of severe fluoropyrimidine-related toxicity: a meta-analysis. Pharmacogenomics. 2013. Terrazzino Salvatore, et al. PubMed
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Pharmacogenetic variants in the DPYD, TYMS, CDA and MTHFR genes are clinically significant predictors of fluoropyrimidine toxicity. British journal of cancer. 2013. Loganayagam A, et al. PubMed
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Genetic polymorphisms of enzymes related to oral tegafur/uracil therapeutic efficacy in patients with hepatocellular carcinoma. Anti-cancer drugs. 2013. Fushiya Nao, et al. PubMed
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Fixed-dose capecitabine is feasible: results from a pharmacokinetic and pharmacogenetic study in metastatic breast cancer. Breast cancer research and treatment. 2013. Rudek Michelle A, et al. PubMed
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A DPYD Variant (Y186C) in Individuals of African Ancestry Is Associated With Reduced DPD Enzyme Activity. Clinical pharmacology and therapeutics. 2013. Offer S M, et al. PubMed
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Fluoropyrimidine toxicity in patients with dihydropyrimidine dehydrogenase splice site variant: the need for further revision of dose and schedule. Internal and emergency medicine. 2013. Magnani Elena, et al. PubMed
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Phenotypic profiling of DPYD variations relevant to 5-fluorouracil sensitivity using real-time cellular analysis and in vitro measurement of enzyme activity. Cancer research. 2013. Offer Steven M, et al. PubMed
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Gender-specific elimination of continuous-infusional 5-fluorouracil in patients with gastrointestinal malignancies: results from a prospective population pharmacokinetic study. Cancer chemotherapy and pharmacology. 2013. Mueller F, et al. PubMed
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Pharmacogenetics and pharmacogenomics: a bridge to individualized cancer therapy. Pharmacogenomics. 2013. Weng Liming, et al. PubMed
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Genetic variability & chemotoxicity of 5-fluorouracil & cisplatin in head & neck cancer patients: a preliminary study. The Indian journal of medical research. 2013. Dhawan Dipali, et al. PubMed
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Dihydropyrimidine Dehydrogenase Gene (DPYD) Polymorphism among Caucasian and non-Caucasian Patients with 5-FU- and Capecitabine-related Toxicity Using Full Sequencing of DPYD. Cancer genomics & proteomics. 2013. Saif Muhammad Wasif. PubMed
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A discovery resource of rare copy number variations in individuals with autism spectrum disorder. G3 (Bethesda, Md.). 2012. Prasad Aparna, et al. PubMed
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Evaluating predictive pharmacogenetic signatures of adverse events in colorectal cancer patients treated with fluoropyrimidines. PloS one. 2013. Jennings Barbara A, et al. PubMed
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Polymorphisms of dihydropyrimidine dehydrogenase gene and clinical outcomes of gastric cancer patients treated with fluorouracil-based adjuvant chemotherapy in Chinese population. Chinese medical journal. 2012. Zhang Xiao-ping, et al. PubMed
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Dihydropyrimidine dehydrogenase (DPD) expression is negatively regulated by certain microRNAs in human lung tissues. Lung cancer (Amsterdam, Netherlands). 2012. Hirota Takeshi, et al. PubMed
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Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration. The pharmacogenomics journal. 2012. Fernandez-Rozadilla C, et al. PubMed
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Relationship between antimetabolite toxicity and pharmacogenetics in Turkish cancer patients. Asian Pacific journal of cancer prevention : APJCP. 2012. Dogan Mutlu, et al. PubMed
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Methylenetetrahydrofolate reductase genetic polymorphisms and toxicity to 5-FU-based chemoradiation in rectal cancer. British journal of cancer. 2011. Thomas F, et al. PubMed
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Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. Clinical genetics. 2011. Carter M T, et al. PubMed
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SNPs and Haplotypes in DPYD and Outcome of Capecitabine-Letter. Clinical cancer research : an official journal of the American Association for Cancer Research. 2011. van Kuilenburg André B P, et al. PubMed
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The association of polymorphisms in 5-fluorouracil metabolism genes with outcome in adjuvant treatment of colorectal cancer. Pharmacogenomics. 2011. Afzal Shoaib, et al. PubMed
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Genetic effects and modifiers of radiotherapy and chemotherapy on survival in pancreatic cancer. Pancreas. 2011. Zeng Hongmei, et al. PubMed
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A bilateral cicatricial ectropion and bilateral upper lid shortening caused by 5-fluorouracil toxicity in a patient with dihydropyrimidine dehydrogenase deficiency. Cutaneous and ocular toxicology. 2011. Obi Ebube E, et al. PubMed
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Relationship between single nucleotide polymorphisms and haplotypes in DPYD and toxicity and efficacy of capecitabine in advanced colorectal cancer. Clinical cancer research : an official journal of the American Association for Cancer Research. 2011. Deenen Maarten J, et al. PubMed
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Identification of potential pharmacogenomic markers of clinical efficacy of 5-fluorouracil in colorectal cancer. International journal of cancer. Journal international du cancer. 2011. Nobili Stefania, et al. PubMed
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Pharmacogenetics: From Bench to Byte- An Update of Guidelines. Clinical pharmacology and therapeutics. 2011. Swen J J, et al. PubMed
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A POLYMORPHISM IN THE CYTIDINE DEAMINASE PROMOTER PREDICTS SEVERE CAPECITABINE-INDUCED HAND-FOOT SYNDROME. Clinical cancer research : an official journal of the American Association for Cancer Research. 2011. Caronia Daniela, et al. PubMed
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Global patterns of genetic diversity and signals of natural selection for human ADME genes. Human molecular genetics. 2011. Li Jing, et al. PubMed
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DPD-based adaptive dosing of 5-FU in patients with head and neck cancer: impact on treatment efficacy and toxicity. Cancer chemotherapy and pharmacology. 2011. Yang Chen Guang, et al. PubMed
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Pharmacogenetic tests in cancer chemotherapy: what physicians should know for clinical application. The Journal of pathology. 2011. Lee Soo-Youn, et al. PubMed
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Phase II study of preoperative radiation plus concurrent daily tegafur-uracil (UFT) with leucovorin for locally advanced rectal cancer. BMC cancer. 2011. Cellier Patrice, et al. PubMed
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Insights into the mechanism of dihydropyrimidine dehydrogenase from site-directed mutagenesis targeting the active site loop and redox cofactor coordination. Biochimica et biophysica acta. 2010. Lohkamp Bernhard, et al. PubMed
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Pharmacogenomic contribution to drug response. Cancer journal (Sudbury, Mass.). 2011. Watson Roshawn G, et al. PubMed
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Value of gene polymorphisms as markers of 5-FU therapy response in stage III colon carcinoma: a pilot study. Cancer chemotherapy and pharmacology. 2010. Fariña-Sarasqueta Arantza, et al. PubMed
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Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity. Human genetics. 2010. van Kuilenburg André B P, et al. PubMed
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Systematic review of pharmacoeconomic studies of pharmacogenomic tests. Pharmacogenomics. 2010. Beaulieu Mathieu, et al. PubMed
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Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project. The Journal of molecular diagnostics : JMD. 2010. Pratt Victoria M, et al. PubMed
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Can the 2-(13)C-uracil breath test be used to predict the effect of the antitumor drug S-1?. Cancer chemotherapy and pharmacology. 2010. Ishii Yukimoto, et al. PubMed
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Investigation of IVS14 + 1G > A polymorphism of DPYD gene in a group of Bosnian patients treated with 5-Fluorouracil and capecitabine. Bosnian journal of basic medical sciences / Udru¿enje basi¿nih mediciniskih znanosti = Association of Basic Medical Sciences. 2010. Ceri¿ Timur, et al. PubMed
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Pharmacogenetic assessment of toxicity and outcome in patients with metastatic colorectal cancer treated with LV5FU2, FOLFOX, and FOLFIRI: FFCD 2000-05. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2010. Boige Valérie, et al. PubMed
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Two cases of 5-fluorouracil toxicity linked with gene variants in the DPYD gene. Clinical biochemistry. 2010. Ofverholm Anna, et al. PubMed
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SNPs in genes coding for ROS metabolism and signalling in association with docetaxel clearance. The pharmacogenomics journal. 2010. Edvardsen H, et al. PubMed
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Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and FOLFOX response in colorectal cancer patients. British journal of clinical pharmacology. 2010. Etienne-Grimaldi Marie-Christine, et al. PubMed
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The contribution of deleterious DPYD gene sequence variants to fluoropyrimidine toxicity in British cancer patients. Cancer chemotherapy and pharmacology. 2010. Loganayagam Aathavan, et al. PubMed
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TaqMan low-density arrays and analysis by artificial neuronal networks predict response to neoadjuvant chemoradiation in esophageal cancer. Pharmacogenomics. 2010. Warnecke-Eberz Ute, et al. PubMed
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Promoter methylation and large intragenic rearrangements of DPYD are not implicated in severe toxicity to 5-fluorouracil-based chemotherapy in gastrointestinal cancer patients. BMC cancer. 2010. Savva-Bordalo Joana, et al. PubMed
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Genetic polymorphisms associated with 5-Fluorouracil-induced neurotoxicity. Chemotherapy. 2010. Kim Suk-Ran, et al. PubMed
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Variants in the dihydropyrimidine dehydrogenase, methylenetetrahydrofolate reductase and thymidylate synthase genes predict early toxicity of 5-fluorouracil in colorectal cancer patients. The Journal of international medical research. 2010. Kristensen M H, et al. PubMed
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Leveraging learning from a phase III colorectal cancer clinical trial: outcomes, methodology, meta-analysis and pharmacogenetics. Transactions of the American Clinical and Climatological Association. 2010. Goldberg Richard M, et al. PubMed
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Association of molecular markers with toxicity outcomes in a randomized trial of chemotherapy for advanced colorectal cancer: the FOCUS trial. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2009. Braun Michael S, et al. PubMed
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The increasing role of pharmacogenetics in the treatment of gastrointestinal cancers. Gastrointestinal cancer research : GCR. 2009. Yalçin Suayib. PubMed
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Co-inhibition of cyclooxygenase-2 and dihydropyrimidine dehydrogenase by non-steroidal anti-inflammatory drugs in tumor cells and xenografts. Anticancer research. 2009. Réti Andrea, et al. PubMed
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Dihydropyrimidine dehydrogenase gene variation and severe 5-fluorouracil toxicity: a haplotype assessment. Pharmacogenomics. 2009. Amstutz Ursula, et al. PubMed
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Pharmacogenetics and biomarkers in colorectal cancer. The pharmacogenomics journal. 2009. Strimpakos A S, et al. PubMed
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Pharmacogenetics and pharmacogenomics of anticancer agents. CA: a cancer journal for clinicians. 2009. Huang R Stephanie, et al. PubMed
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Predicting clinical outcome of 5-fluorouracil-based chemotherapy for colon cancer patients: is the CpG island methylator phenotype the 5-fluorouracil-responsive subgroup?. International journal of clinical oncology / Japan Society of Clinical Oncology. 2008. Iacopetta Barry, et al. PubMed
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Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidine-related toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemotherapy. Neoplasma. 2009. Kleibl Z, et al. PubMed
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Predictive Factors for Response and Toxicity in Chemotherapy: Pharmacogenomics. Seminars in colon & rectal surgery. 2008. Sanoff Hanna K, et al. PubMed
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Pathway based analysis of SNPs with relevance to 5-FU therapy: relation to intratumoral mRNA expression and survival. International journal of cancer. Journal international du cancer. 2008. Nordgard Silje H, et al. PubMed
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Dihydropyrimidine dehydrogenases and cytidine-deaminase gene polymorphisms as outcome predictors in resected gastric cancer patients treated with fluoropyrimidine adjuvant chemotherapy. Journal of surgical oncology. 2008. Grau Juan J, et al. PubMed
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The influence of fluorouracil outcome parameters on tolerance and efficacy in patients with advanced colorectal cancer. The pharmacogenomics journal. 2008. Capitain O, et al. PubMed
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Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in Chinese cancer patients. Journal of clinical pharmacy and therapeutics. 2008. He Y-F, et al. PubMed
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Pharmacokinetics of 5-fluorouracil in patients heterozygous for the IVS14+1G > A mutation in the dihydropyrimidine dehydrogenase gene. Nucleosides, nucleotides & nucleic acids. 2008. van Kuilenburg A B P, et al. PubMed
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Role of genetic and nongenetic factors for fluorouracil treatment-related severe toxicity: a prospective clinical trial by the German 5-FU Toxicity Study Group. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2008. Schwab Matthias, et al. PubMed
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Structural variation of chromosomes in autism spectrum disorder. American journal of human genetics. 2008. Marshall Christian R, et al. PubMed
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Hypermethylation of the DPYD promoter region is not a major predictor of severe toxicity in 5-fluorouracil based chemotherapy. Journal of experimental & clinical cancer research : CR. 2008. Amstutz Ursula, et al. PubMed
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Pharmacogenomics of drug-metabolizing enzymes and drug transporters in chemotherapy. Methods in molecular biology (Clifton, N.J.). 2008. Bosch Tessa M. PubMed
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5-Fluorouracil toxicity-attributable IVS14 + 1G > A mutation of the dihydropyrimidine dehydrogenase gene in Polish colorectal cancer patients. Pharmacological reports : PR. 2008. Sulzyc-Bielicka Violetta, et al. PubMed
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Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients. PloS one. 2008. Gross Eva, et al. PubMed
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Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism. Pharmacogenetics and genomics. 2007. Thomas Holly R, et al. PubMed
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Paclitaxel, carboplatin, 5-fluorouracil, and radiation for locally advanced esophageal cancer: phase II results of preliminary pharmacologic and molecular efforts to mitigate toxicity and predict outcomes: North Central Cancer Treatment Group (N0044). American journal of clinical oncology. 2007. Jatoi Aminah, et al. PubMed
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DPYD*2A mutation: the most common mutation associated with DPD deficiency. Cancer chemotherapy and pharmacology. 2007. Saif M W, et al. PubMed
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Dihydropyrimidine dehydrogenase activity and the IVS14+1G>A mutation in patients developing 5FU-related toxicity. British journal of clinical pharmacology. 2007. Magné Nicolas, et al. PubMed
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5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency. Cancer letters. 2007. Boisdron-Celle M, et al. PubMed
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Thymidylate synthase (TYMS) and dihydropyrimidine dehydrogenase (DPYD) polymorphisms in the Korean population for prediction of 5-fluorouracil-associated toxicity. Therapeutic drug monitoring. 2007. Cho Hyun-Jung, et al. PubMed
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Polymorphisms in the thymidylate synthase and dihydropyrimidine dehydrogenase genes predict response and toxicity to capecitabine-raltitrexed in colorectal cancer. Oncology reports. 2007. Salgado Josefa, et al. PubMed
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Genetic variations and haplotype structures of the DPYD gene encoding dihydropyrimidine dehydrogenase in Japanese and their ethnic differences. Journal of human genetics. 2007. Maekawa Keiko, et al. PubMed
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DPYD*5 gene mutation contributes to the reduced DPYD enzyme activity and chemotherapeutic toxicity of 5-FU: results from genotyping study on 75 gastric carcinoma and colon carcinoma patients. Medical oncology (Northwood, London, England). 2007. Zhang Hong, et al. PubMed
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Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance. Molecular cancer therapeutics. 2006. Morel Alain, et al. PubMed
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A pharmacokinetic-based test to prevent severe 5-fluorouracil toxicity. Clinical pharmacology and therapeutics. 2006. Bocci Guido, et al. PubMed
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Pharmacogenetics of capecitabine in advanced breast cancer patients. Clinical cancer research : an official journal of the American Association for Cancer Research. 2006. Largillier Rémy, et al. PubMed
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Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients. Clinical cancer research : an official journal of the American Association for Cancer Research. 2005. Ezzeldin Hany H, et al. PubMed
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Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in a cohort of Caucasian individuals. Clinical cancer research : an official journal of the American Association for Cancer Research. 2005. Seck Katharina, et al. PubMed
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Correlations between antitumor activities of fluoropyrimidines and DPD activity in lung tumor xenografts. Oncology reports. 2005. Takechi Teiji, et al. PubMed
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5-Fluorouracil/irinotecan induced lethal toxicity as a result of a combined pharmacogenetic syndrome: report of a case. Journal of clinical pathology. 2005. Steiner M, et al. PubMed
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Dihydropyrimidine dehydrogenase deficiency presenting at birth. Journal of inherited metabolic disease. 2005. Al-Sanna'a N A, et al. PubMed
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Multiple organ failure due to 5-fluorouracil chemotherapy in a patient with a rare dihydropyrimidine dehydrogenase gene variant. Onkologie. 2004. Lazar A, et al. PubMed
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Dihydropyrimidine dehydrogenase pharmacogenetics in the Taiwanese population. Cancer chemotherapy and pharmacology. 2004. Hsiao Hui-Hua, et al. PubMed
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Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5-Fluorouracil toxicity in Portuguese colorectal cancer patients. Genetics in medicine : official journal of the American College of Medical Genetics. 2004. Salgueiro Natália, et al. PubMed
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Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects. Human mutation. 2003. Gross Eva, et al. PubMed
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Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity. Clinical cancer research : an official journal of the American Association for Cancer Research. 2003. van Kuilenburg André B P, et al. PubMed
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High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity. Pharmacogenetics. 2002. Van Kuilenburg André B, et al. PubMed
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Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1g>a mutation. International journal of cancer. Journal international du cancer. 2002. Van Kuilenburg André B P, et al. PubMed
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Novel aspects of resistance to drugs targeted to dihydrofolate reductase and thymidylate synthase. Biochimica et biophysica acta. 2002. Banerjee Debabrata, et al. PubMed
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Implications of dihydropyrimidine dehydrogenase on 5-fluorouracil pharmacogenetics and pharmacogenomics. Pharmacogenomics. 2002. Mattison Lori K, et al. PubMed
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Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure. The Biochemical journal. 2002. van Kuilenburg André B P, et al. PubMed
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Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene. British journal of cancer. 2002. Maring J G, et al. PubMed
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Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling. Cancer cell. 2002. Yeoh Eng-Juh, et al. PubMed
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Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. Clinical cancer research : an official journal of the American Association for Cancer Research. 2002. Johnson Martin R, et al. PubMed
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Prevalence of a common point mutation in the dihydropyrimidine dehydrogenase (DPD) gene within the 5'-splice donor site of intron 14 in patients with severe 5-fluorouracil (5-FU)- related toxicity compared with controls. Clinical cancer research : an official journal of the American Association for Cancer Research. 2001. Raida M, et al. PubMed
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Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency. Clinical cancer research : an official journal of the American Association for Cancer Research. 2001. van Kuilenburg A B, et al. PubMed
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Therapeutic drug monitoring of cytotoxic drugs. British journal of clinical pharmacology. 2001. Lennard L. PubMed
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Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene. Clinical cancer research : an official journal of the American Association for Cancer Research. 2000. van Kuilenburg A B, et al. PubMed
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The tegafur-based dihydropyrimidine dehydrogenase inhibitory fluoropyrimidines, UFT/leucovorin (ORZEL) and S-1: a review of their clinical development and therapeutic potential. Investigational new drugs. 2000. Hoff P M. PubMed
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Known variant DPYD alleles do not explain DPD deficiency in cancer patients. Pharmacogenetics. 2000. Collie-Duguid E S, et al. PubMed
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Pitfalls in the diagnosis of patients with a partial dihydropyrimidine dehydrogenase deficiency. Clinical chemistry. 2000. Van Kuilenburg A B, et al. PubMed
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Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation. Journal of inherited metabolic disease. 1999. Van Kuilenburg A B, et al. PubMed
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Dihydropyrimidine dehydrogenase deficiency and fluorouracil-related toxicity. British journal of cancer. 1999. Milano G, et al. PubMed
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Therapeutic drug monitoring of antimetabolic cytotoxic drugs. British journal of clinical pharmacology. 1999. Lennard L. PubMed
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Human genetics. 1999. Van Kuilenburg A B, et al. PubMed
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Identification of novel mutations in the dihydropyrimidine dehydrogenase gene in a Japanese patient with 5-fluorouracil toxicity. Clinical cancer research : an official journal of the American Association for Cancer Research. 1998. Kouwaki M, et al. PubMed
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Nomenclature for human DPYD alleles. Pharmacogenetics. 1998. McLeod H L, et al. PubMed
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Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects. British journal of clinical pharmacology. 1998. Ridge S A, et al. PubMed
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Characterization of the human dihydropyrimidine dehydrogenase gene. Genomics. 1998. Wei X, et al. PubMed
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Dihydropyrimidine dehydrogenase pharmacogenetics in patients with colorectal cancer. British journal of cancer. 1998. Ridge S A, et al. PubMed
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Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W. Human genetics. 1997. Vreken P, et al. PubMed
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Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity. European journal of cancer (Oxford, England : 1990). 1997. Van Kuilenburg A B, et al. PubMed
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Partial epilepsy in a girl with a symptom-free sister: first two Finnish patients with dihydropyrimidine dehydrogenase deficiency. Journal of inherited metabolic disease. 1997. Holopainen I, et al. PubMed
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Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene. Journal of inherited metabolic disease. 1997. Vreken P, et al. PubMed
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Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. The Journal of clinical investigation. 1996. Wei X, et al. PubMed
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Diagnostic analysis, clinical importance and molecular basis of dihydropyrimidine dehydrogenase deficiency. Trends in pharmacological sciences. 1995. Gonzalez F J, et al. PubMed
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Assignment of the human dihydropyrimidine dehydrogenase gene (DPYD) to chromosome region 1p22 by fluorescence in situ hybridization. Genomics. 1994. Takai S, et al. PubMed
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Population study of dihydropyrimidine dehydrogenase in cancer patients. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 1994. Etienne M C, et al. PubMed
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cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-fluorouracil toxicity and congenital thymine uraciluria. The Journal of biological chemistry. 1994. Yokota H, et al. PubMed
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Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity. The Journal of clinical investigation. 1988. Diasio R B, et al. PubMed

LinkOuts

NCBI Gene:
1806
OMIM:
274270
612779
UCSC Genome Browser:
NM_000110
RefSeq RNA:
NM_000110
NM_001160301
RefSeq Protein:
NP_000101
NP_001153773
RefSeq DNA:
NG_008807
NT_032977
UniProtKB:
DPYD_HUMAN (Q12882)
Q96HL6_HUMAN (Q96HL6)
Ensembl:
ENSG00000188641
GenAtlas:
DPYD
GeneCard:
DPYD
MutDB:
DPYD
ALFRED:
LO003560O
HuGE:
DPYD
Comparative Toxicogenomics Database:
1806
ModBase:
Q12882
HumanCyc Gene:
HS06975
HGNC:
3012

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