Chemical: Drug
docetaxel

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.


1. FDA Label for docetaxel

Full label available at DailyMed

Genes and/or phenotypes found in this label

  • Breast Neoplasms
    • Indications & usage section, Warnings section, Adverse reactions section
    • source: PHONT
  • Carcinoma, Non-Small-Cell Lung
    • Indications & usage section, Warnings section, Adverse reactions section
    • source: PHONT
  • Head and Neck Neoplasms
    • Indications & usage section, Adverse reactions section
    • source: PHONT
  • Leukopenia
    • Warnings section, Adverse reactions section
    • source: PHONT
  • Lung Neoplasms
    • Indications & usage section, Warnings section, Adverse reactions section
    • source: PHONT
  • Neoplasms
    • Indications & usage section, Warnings section, Adverse reactions section
    • source: PHONT
  • Prostatic Neoplasms
    • Indications & usage section, Warnings section, Adverse reactions section
    • source: PHONT
  • Stomach Neoplasms
    • Warnings section, Adverse reactions section
    • source: PHONT

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

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

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.

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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.

Links in the "Gene" column lead to PharmGKB Gene Pages.

List of all variant annotations for docetaxel

Gene ? Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No VIP available VA CYP2A6 *1A N/A N/A N/A
No VIP available No VIP available VA CYP2A6 *4A N/A N/A N/A
No VIP available CA VA HNF4A TATTT N/A N/A N/A
No VIP available CA VA HNF4A TGCGC N/A N/A N/A
No VIP available CA VA RXRA AG N/A N/A N/A
No VIP available CA VA RXRA GA N/A N/A N/A
No VIP available No Clinical Annotations available VA
rs1005230 NC_000006.11:g.43736496T>C, NC_000006.12:g.43768759T>C, NG_008732.1:g.3544T>C, NM_001025366.2:c.-1948T>C, NM_001025367.2:c.-1948T>C, NM_001025368.2:c.-1948T>C, NM_001025369.2:c.-1948T>C, NM_001025370.2:c.-1948T>C, NM_001033756.2:c.-1948T>C, NM_001171622.1:c.-1948T>C, NM_001171623.1:c.-2488T>C, NM_001171624.1:c.-2488T>C, NM_001171625.1:c.-2488T>C, NM_001171626.1:c.-2488T>C, NM_001171627.1:c.-2488T>C, NM_001171628.1:c.-2488T>C, NM_001171629.1:c.-2488T>C, NM_001171630.1:c.-2488T>C, NM_001204384.1:c.-2488T>C, NM_001204385.1:c.-1948T>C, NM_001317010.1:c.-2488T>C, NM_003376.5:c.-1948T>C, rs2782257, rs36208052, rs61708505
T > C
SNP
No VIP available No Clinical Annotations available VA
rs1042522 NC_000017.10:g.7579472G=, NC_000017.10:g.7579472G>C, NC_000017.10:g.7579472G>T, NC_000017.11:g.7676154G=, NC_000017.11:g.7676154G>C, NC_000017.11:g.7676154G>T, NG_017013.2:g.16397C=, NG_017013.2:g.16397C>A, NG_017013.2:g.16397C>G, NM_000546.5:c.215C=, NM_000546.5:c.215C>A, NM_000546.5:c.215C>G, NM_001126112.2:c.215C=, NM_001126112.2:c.215C>A, NM_001126112.2:c.215C>G, NM_001126113.2:c.215C=, NM_001126113.2:c.215C>A, NM_001126113.2:c.215C>G, NM_001126114.2:c.215C=, NM_001126114.2:c.215C>A, NM_001126114.2:c.215C>G, NM_001126115.1:c.-939C=, NM_001126115.1:c.-939C>A, NM_001126115.1:c.-939C>G, NM_001126116.1:c.-939C=, NM_001126116.1:c.-939C>A, NM_001126116.1:c.-939C>G, NM_001126117.1:c.-939C=, NM_001126117.1:c.-939C>A, NM_001126117.1:c.-939C>G, NM_001126118.1:c.98C=, NM_001126118.1:c.98C>A, NM_001126118.1:c.98C>G, NM_001276695.1:c.98C=, NM_001276695.1:c.98C>A, NM_001276695.1:c.98C>G, NM_001276696.1:c.98C=, NM_001276696.1:c.98C>A, NM_001276696.1:c.98C>G, NM_001276697.1:c.-1020C=, NM_001276697.1:c.-1020C>A, NM_001276697.1:c.-1020C>G, NM_001276698.1:c.-1020C=, NM_001276698.1:c.-1020C>A, NM_001276698.1:c.-1020C>G, NM_001276699.1:c.-1020C=, NM_001276699.1:c.-1020C>A, NM_001276699.1:c.-1020C>G, NM_001276760.1:c.98C=, NM_001276760.1:c.98C>A, NM_001276760.1:c.98C>G, NM_001276761.1:c.98C=, NM_001276761.1:c.98C>A, NM_001276761.1:c.98C>G, NP_000537.3:p.Pro72=, NP_000537.3:p.Pro72Arg, NP_000537.3:p.Pro72His, NP_001119584.1:p.Pro72=, NP_001119584.1:p.Pro72Arg, NP_001119584.1:p.Pro72His, NP_001119585.1:p.Pro72=, NP_001119585.1:p.Pro72Arg, NP_001119585.1:p.Pro72His, NP_001119586.1:p.Pro72=, NP_001119586.1:p.Pro72Arg, NP_001119586.1:p.Pro72His, NP_001119590.1:p.Pro33=, NP_001119590.1:p.Pro33Arg, NP_001119590.1:p.Pro33His, NP_001263624.1:p.Pro33=, NP_001263624.1:p.Pro33Arg, NP_001263624.1:p.Pro33His, NP_001263625.1:p.Pro33=, NP_001263625.1:p.Pro33Arg, NP_001263625.1:p.Pro33His, NP_001263689.1:p.Pro33=, NP_001263689.1:p.Pro33Arg, NP_001263689.1:p.Pro33His, NP_001263690.1:p.Pro33=, NP_001263690.1:p.Pro33Arg, NP_001263690.1:p.Pro33His, XM_005256778.1:c.176-21C=, XM_005256778.1:c.176-21C>A, XM_005256778.1:c.176-21C>G, XR_243565.1:n.354C=, XR_243565.1:n.354C>A, XR_243565.1:n.354C>G, XR_243566.1:n.354C=, XR_243566.1:n.354C>A, XR_243566.1:n.354C>G, rs17844988, rs17857747, rs17882155, rs2229076, rs3174747, rs4134781, rs60388830
G > C
SNP
P72R
No VIP available No Clinical Annotations available VA
rs1042858 NC_000011.10:g.4138236G>A, NC_000011.9:g.4159466G>A, NG_027992.2:g.48543G>A, NM_001033.3:c.2232G>A, NM_001033.4:c.2232G>A, NM_001318064.1:c.1941G>A, NM_001318065.1:c.1218G>A, NP_001024.1:p.Ala744=, NP_001304993.1:p.Ala647=, NP_001304994.1:p.Ala406=, XM_005253058.1:c.1989G>A, XM_005253059.1:c.1941G>A, XM_011520277.1:c.1941G>A, XM_011520278.1:c.1566G>A, XM_011520279.1:c.1218G>A, XP_005253115.1:p.Ala663=, XP_005253116.1:p.Ala647=, XP_011518579.1:p.Ala647=, XP_011518580.1:p.Ala522=, XP_011518581.1:p.Ala406=, rs17850107, rs2229195, rs2584873, rs3168060, rs57259172
G > A
SNP
A744A
No VIP available No Clinical Annotations available VA
rs1045642 NC_000007.13:g.87138645A>G, NC_000007.14:g.87509329A>G, NG_011513.1:g.208920T>C, NM_000927.4:c.3435T>C, NP_000918.2:p.Ile1145=, rs10239679, rs11568726, rs117328163, rs17210003, rs2229108, rs386513066, rs60023214, rs9690664
A > G
SNP
I1145I
No VIP available CA VA
rs1048943 NC_000015.10:g.74720644T>C, NC_000015.9:g.75012985T>C, NG_008431.1:g.3103T>C, NM_000499.3:c.1384A>G, NM_000499.4:c.1384A>G, NM_001319216.1:c.1297A>G, NM_001319217.1:c.1384A>G, NP_000490.1:p.Ile462Val, NP_001306145.1:p.Ile433Val, NP_001306146.1:p.Ile462Val, XM_005254185.1:c.1384A>G, XM_005254186.1:c.1384A>G, XM_005254187.1:c.1300A>G, XM_005254188.1:c.1297A>G, XM_005254189.1:c.601A>G, XP_005254242.1:p.Ile462Val, XP_005254243.1:p.Ile462Val, XP_005254244.1:p.Ile434Val, XP_005254245.1:p.Ile433Val, XP_005254246.1:p.Ile201Val, rs17861092, rs3188998, rs386513458, rs52810784
T > C
SNP
I462V
No VIP available No Clinical Annotations available VA
rs10509681 NC_000010.10:g.96798749T>C, NC_000010.11:g.95038992T>C, NG_007972.1:g.35506A>G, NM_000770.3:c.1196A>G, NM_001198853.1:c.986A>G, NM_001198854.1:c.890A>G, NM_001198855.1:c.986A>G, NP_000761.3:p.Lys399Arg, NP_001185782.1:p.Lys329Arg, NP_001185783.1:p.Lys297Arg, NP_001185784.1:p.Lys329Arg, XR_246073.1:n.1331A>G, XR_945610.1:n.1331A>G, rs17522568, rs56435423, rs61450273
T > C
SNP
K399R
No VIP available CA VA
rs10538494
A > T
SNP
No VIP available CA VA
rs1056836 NC_000002.11:g.38298203C>G, NC_000002.12:g.38071060G=, NG_008386.2:g.10042C=, NG_008386.2:g.10042C>G, NM_000104.3:c.1294C=, NM_000104.3:c.1294C>G, NP_000095.2:p.Leu432=, NP_000095.2:p.Leu432Val, rs17405323, rs3731848, rs52802961, rs59494749
C > G
SNP
L432V
No VIP available CA VA
rs11045585 NC_000012.11:g.21045694A>G, NC_000012.12:g.20892760A>G, NG_032071.1:g.87057A>G, NM_019844.3:c.1683-5676A>G, XM_005253347.1:c.1683-5676A>G
A > G
SNP
No VIP available CA VA
rs11185647 NC_000009.11:g.137215828G>A, NC_000009.12:g.134323982G>A, NW_004070868.1:g.137606G>A, rs60398520
G > A
SNP
No VIP available CA VA
rs11185648
C > T
SNP
No VIP available No Clinical Annotations available VA
rs1128503 NC_000007.13:g.87179601A>G, NC_000007.14:g.87550285A>G, NG_011513.1:g.167964T>C, NM_000927.4:c.1236T>C, NP_000918.2:p.Gly412=, rs116989428, rs17276907, rs2032587, rs2229105, rs28365046, rs386518005, rs58257317
A > G
SNP
G412G
No VIP available No Clinical Annotations available VA
rs1136201 NC_000017.10:g.37879588A>G, NC_000017.11:g.39723335A>G, NG_007503.1:g.40196A>G, NM_001005862.2:c.1873A>G, NM_001289936.1:c.1918A>G, NM_001289937.1:c.1963A>G, NM_004448.3:c.1963A>G, NP_001005862.1:p.Ile625Val, NP_001276865.1:p.Ile640Val, NP_001276866.1:p.Ile655Val, NP_004439.2:p.Ile655Val, NR_110535.1:n.2287A>G, XM_005257139.1:c.1918A>G, XM_005257140.1:c.1873A>G, XP_005257196.1:p.Ile640Val, XP_005257197.1:p.Ile625Val, rs17606815, rs1801200, rs2006406, rs2230699, rs59955961
A > -
A > G
SNP
I625V
No VIP available CA VA
rs11615 NC_000019.10:g.45420395A>G, NC_000019.9:g.45923653A>G, NG_015839.2:g.63434T>C, NM_001166049.1:c.354T>C, NM_001983.3:c.354T>C, NM_202001.2:c.354T>C, NP_001159521.1:p.Asn118=, NP_001974.1:p.Asn118=, NP_973730.1:p.Asn118=, XM_005258634.1:c.354T>C, XM_005258635.1:c.354T>C, XM_005258635.2:c.354T>C, XM_005258636.1:c.354T>C, XM_005258636.3:c.354T>C, XM_005258637.1:c.354T>C, XM_005258638.1:c.138T>C, XM_011526610.1:c.354T>C, XP_005258691.1:p.Asn118=, XP_005258692.1:p.Asn118=, XP_005258693.1:p.Asn118=, XP_005258694.1:p.Asn118=, XP_005258695.1:p.Asn46=, XP_011524912.1:p.Asn118=, rs1130005, rs17285882, rs17359303, rs17845191, rs17858003, rs17859564, rs2228629, rs3177700, rs3188446, rs3752251, rs59923575
A > G
SNP
N118N
No VIP available CA VA
rs11710163 NC_000003.11:g.12696288A>G, NC_000003.12:g.12654789A>G, NG_007467.1:g.14391T>C, NM_002880.3:c.-27+9024T>C, XM_005265355.1:c.-27+8580T>C, XM_005265356.1:c.-120+9024T>C, XM_005265357.1:c.-27+9024T>C, XM_005265358.1:c.-157+9024T>C, XM_005265358.3:c.-157+9024T>C, XM_005265359.1:c.-157+9024T>C, XM_005265359.3:c.-157+9024T>C, XM_005265360.1:c.-27+9024T>C, XM_011533974.1:c.-120+9024T>C, XM_011533975.1:c.-250+9024T>C, rs58836253
A > G
SNP
No VIP available CA No Variant Annotations available
rs121434568 NC_000007.13:g.55259515T>G, NC_000007.14:g.55191822T>G, NG_007726.3:g.177791T>G, NM_005228.3:c.2573T>G, NP_005219.2:p.Leu858Arg, XM_005271746.1:c.2438T>G, XM_005271747.1:c.2414T>G, XP_005271803.1:p.Leu813Arg, XP_005271804.1:p.Leu805Arg
T > G
SNP
L858R
No VIP available CA VA
rs12415607 NC_000010.10:g.115438204C>A, NC_000010.11:g.113678445C>A, NM_001227.4:c.-1534C>A, NM_001267056.1:c.-905C>A, NM_001267057.1:c.-1310C>A, NM_033338.5:c.-1542C>A, NM_033339.4:c.-1608C>A, NM_033340.3:c.-905C>A, XM_006718018.1:c.-912C>A, rs34414451, rs56491430, rs60647096
C > A
SNP
No VIP available CA VA
rs12418 NC_000010.10:g.73773014G>A, NC_000010.11:g.72013256G>A, NG_012635.1:g.53895G>A, NM_004273.4:c.*4785G>A, XM_006718075.2:c.*4785G>A, XM_011540369.1:c.*4785G>A, rs17231735, rs3197880, rs56605844, rs60171882
G > A
SNP
No VIP available CA VA
rs12762549 NC_000010.10:g.101620771C>G, NC_000010.11:g.99861014C>G, rs61161342
C > G
SNP
No VIP available CA VA
rs12960 NC_000016.10:g.89553920G>A, NC_000016.9:g.89620328G>A, NG_008082.1:g.50524G>A, NM_003119.3:c.2063G>A, NP_003110.1:p.Arg688Gln, XM_005256320.1:c.-21+6990G>A, XM_006721264.2:c.2063G>A, XP_006721327.1:p.Arg688Gln, rs16965809, rs17354997, rs1801445, rs730263
G > A
SNP
R688Q
No VIP available CA VA
rs13181 NC_000019.10:g.45351661T>G, NC_000019.9:g.45854919T>G, NG_007067.2:g.23927A>C, NM_000400.3:c.2251A>C, NM_177417.2:c.*304T>G, NP_000391.1:p.Lys751Gln, XM_005258536.1:c.*128T>G, XM_005258536.3:c.*128T>G, XM_005258537.1:c.*128T>G, XM_005258538.1:c.*304T>G, XM_005258539.1:c.*304T>G, XM_005258639.1:c.2179A>C, XM_005258640.1:c.2017A>C, XM_005258641.1:c.1513A>C, XM_011526611.1:c.2173A>C, XP_005258696.1:p.Lys727Gln, XP_005258697.1:p.Lys673Gln, XP_005258698.1:p.Lys505Gln, XP_011524913.1:p.Lys725Gln, rs1052559, rs17285142, rs17355147, rs17359310, rs3170171, rs3859422, rs60606175
T > G
SNP
K751Q
No VIP available CA VA
rs13207351 NC_000006.11:g.43737794A>G, NC_000006.12:g.43770057A>G, NG_008732.1:g.4842A>G, NM_001025366.2:c.-650A>G, NM_001025367.2:c.-650A>G, NM_001025368.2:c.-650A>G, NM_001025369.2:c.-650A>G, NM_001025370.2:c.-650A>G, NM_001033756.2:c.-650A>G, NM_001171622.1:c.-650A>G, NM_001171623.1:c.-1190A>G, NM_001171624.1:c.-1190A>G, NM_001171625.1:c.-1190A>G, NM_001171626.1:c.-1190A>G, NM_001171627.1:c.-1190A>G, NM_001171628.1:c.-1190A>G, NM_001171629.1:c.-1190A>G, NM_001171630.1:c.-1190A>G, NM_001204384.1:c.-1190A>G, NM_001204385.1:c.-650A>G, NM_001287044.1:c.-2063A>G, NM_001317010.1:c.-1190A>G, NM_003376.5:c.-650A>G, XM_005249363.1:c.-2063A>G, rs36208387, rs57802586
A > G
SNP
No VIP available No Clinical Annotations available VA
rs1374749 NC_000002.11:g.46596433G>A, NC_000002.12:g.46369294G>A, NG_016000.1:g.76893G>A, NM_001430.4:c.780-533G>A, XM_011532698.1:c.819-533G>A, rs58613482
G > A
SNP
No VIP available CA VA
rs1382368 NC_000005.10:g.83155256C>T, NC_000005.9:g.82451075C>T, NM_001318012.1:c.316-40514C>T, NM_001318013.1:c.316-40514C>T, NM_003401.4:c.316-40514C>T, NM_022406.3:c.316-40514C>T, NM_022550.3:c.316-40514C>T, XM_005248595.1:c.316-40514C>T, XM_011543626.1:c.316-40514C>T, XM_011543627.1:c.316-40514C>T, XM_011543628.1:c.316-40514C>T
C > T
SNP
No VIP available CA VA
rs139887 NC_000022.10:g.38371396G>C, NC_000022.11:g.37975389G>C, NG_007948.1:g.14144C>G, NM_001301130.1:c.293+8219G>C, NM_001301131.1:c.293+8219G>C, NM_006941.3:c.698-1191C>G, XM_005261720.1:c.698-1191C>G, XR_938243.1:n.158+3079G>C, rs57328544
G > C
SNP
No VIP available CA VA
rs1402467 NC_000002.11:g.108994808C>G, NC_000002.12:g.108378352C>G, NM_006588.2:c.15C>G, NP_006579.2:p.Asp5Glu, XM_005263919.1:c.15C>G, XM_005263919.2:c.15C>G, XP_005263976.1:p.Asp5Glu, rs52816974, rs61392346
C > G
SNP
D5E
No VIP available CA VA
rs144854329 NC_000006.11:g.43736416_43736433del18, NC_000006.12:g.43768679_43768696del18, NG_008732.1:g.3464_3481del18, NM_001025366.2:c.-2028_-2011del, NM_001025366.2:c.-2028_-2011del18, NM_001025367.2:c.-2028_-2011del, NM_001025367.2:c.-2028_-2011del18, NM_001025368.2:c.-2028_-2011del, NM_001025368.2:c.-2028_-2011del18, NM_001025369.2:c.-2028_-2011del, NM_001025369.2:c.-2028_-2011del18, NM_001025370.2:c.-2028_-2011del, NM_001025370.2:c.-2028_-2011del18, NM_001033756.2:c.-2028_-2011del, NM_001033756.2:c.-2028_-2011del18, NM_001171622.1:c.-2028_-2011del, NM_001171622.1:c.-2028_-2011del18, NM_001171623.1:c.-2568_-2551del, NM_001171623.1:c.-2568_-2551del18, NM_001171624.1:c.-2568_-2551del, NM_001171624.1:c.-2568_-2551del18, NM_001171625.1:c.-2568_-2551del, NM_001171625.1:c.-2568_-2551del18, NM_001171626.1:c.-2568_-2551del, NM_001171626.1:c.-2568_-2551del18, NM_001171627.1:c.-2568_-2551del, NM_001171627.1:c.-2568_-2551del18, NM_001171628.1:c.-2568_-2551del, NM_001171628.1:c.-2568_-2551del18, NM_001171629.1:c.-2568_-2551del, NM_001171629.1:c.-2568_-2551del18, NM_001171630.1:c.-2568_-2551del, NM_001171630.1:c.-2568_-2551del18, NM_001204384.1:c.-2568_-2551del, NM_001204384.1:c.-2568_-2551del18, NM_001204385.1:c.-2028_-2011del, NM_001204385.1:c.-2028_-2011del18, NM_001317010.1:c.-2568_-2551del, NM_001317010.1:c.-2568_-2551del18, NM_003376.5:c.-2028_-2011del, NM_003376.5:c.-2028_-2011del18
GGTCCCACTCTTCCCACA > -
indel
No VIP available CA VA
rs1536475 NC_000009.11:g.137321156A>G, NC_000009.12:g.134429310A>G, NM_001291920.1:c.962+70A>G, NM_001291921.1:c.752+70A>G, NM_002957.5:c.1043+70A>G, XM_005263409.1:c.962+70A>G, rs17569161, rs35657656
A > G
SNP
No VIP available CA VA
rs1563828 NC_000001.10:g.204516577A>G, NC_000001.11:g.204547449A>G, NG_029367.1:g.36071A>G, NM_001204171.1:c.753+572A>G, NM_001204172.1:c.79-1817A>G, NM_001278516.1:c.*412+572A>G, NM_001278517.1:c.609+572A>G, NM_001278518.1:c.*73+572A>G, NM_001278519.1:c.234+572A>G, NM_002393.4:c.903+572A>G, XM_005245168.1:c.957+572A>G, XM_006711328.1:c.888+572A>G, XM_011509565.1:c.903+572A>G, XM_011509566.1:c.*412+572A>G, XR_241079.1:n.1026+572A>G, XR_241080.1:n.1001+572A>G, XR_241081.1:n.851+572A>G, rs3789049
A > G
SNP
No VIP available CA VA
rs1570360 NC_000006.11:g.43737830A>G, NC_000006.12:g.43770093A>G, NG_008732.1:g.4878A>G, NM_001025366.2:c.-614A>G, NM_001025367.2:c.-614A>G, NM_001025368.2:c.-614A>G, NM_001025369.2:c.-614A>G, NM_001025370.2:c.-614A>G, NM_001033756.2:c.-614A>G, NM_001171622.1:c.-614A>G, NM_001171623.1:c.-1154A>G, NM_001171624.1:c.-1154A>G, NM_001171625.1:c.-1154A>G, NM_001171626.1:c.-1154A>G, NM_001171627.1:c.-1154A>G, NM_001171628.1:c.-1154A>G, NM_001171629.1:c.-1154A>G, NM_001171630.1:c.-1154A>G, NM_001204384.1:c.-1154A>G, NM_001204385.1:c.-614A>G, NM_001287044.1:c.-2027A>G, NM_001317010.1:c.-1154A>G, NM_003376.5:c.-614A>G, XM_005249363.1:c.-2027A>G, rs36208386, rs58036053
A > G
SNP
No VIP available No Clinical Annotations available VA
rs1629140 NC_000014.8:g.34413826A>G, NC_000014.9:g.33944620A>G, NM_001308103.1:c.75+6058T>C, NM_022073.3:c.357+5776T>C, XM_006720015.2:c.75+6058T>C, rs17506218, rs60386310
A > G
SNP
No VIP available CA VA
rs16886403 NC_000005.10:g.56843419T>C, NC_000005.9:g.56139246T>C, NG_031884.1:g.33347T>C, NM_005921.1:c.483-13181T>C, XM_005248519.1:c.72-13181T>C, XM_005248519.3:c.105-13181T>C, XM_005248520.1:c.-7-13181T>C, XM_011543406.1:c.228-13181T>C, XM_011543407.1:c.483-13181T>C, XM_011543408.1:c.483-13181T>C, rs57623389, rs58749465
T > C
SNP
No VIP available No Clinical Annotations available VA
rs1695 NC_000011.10:g.67585218A>G, NC_000011.9:g.67352689A>G, NG_012075.1:g.6624A>G, NM_000852.3:c.313A>G, NP_000843.1:p.Ile105Val, XM_005273958.1:c.313A>G, XP_005274015.1:p.Ile105Val, rs1138257, rs11553891, rs17353321, rs17856342, rs2230827, rs4609, rs56971933, rs947894
A > G
SNP
I105V
No VIP available CA VA
rs17309872 NC_000020.10:g.33515788A>T, NC_000020.11:g.34927985A>T, NG_008848.1:g.32814T>A, NG_011520.1:g.58044A>T, NM_000178.2:c.*843T>A, NM_001076552.2:c.*771A>T, NM_001242393.1:c.*771A>T, NM_018677.3:c.*771A>T, XM_005260405.1:c.*843T>A, XM_005260406.1:c.*843T>A, XM_005260406.3:c.*843T>A, XM_005260454.1:c.*771A>T, XM_005260455.1:c.*771A>T, XM_005260456.1:c.*771A>T, XM_005260457.1:c.*771A>T, XM_006723826.1:c.*771A>T, XM_011528796.1:c.*843T>A, XM_011528905.1:c.*771A>T, XM_011528906.1:c.*771A>T, XM_011528907.1:c.*771A>T, XM_011528908.1:c.*771A>T, XM_011528909.1:c.*771A>T, XM_011528910.1:c.*771A>T, XM_011528911.1:c.*771A>T, XM_011528912.1:c.*771A>T
A > G
A > T
SNP
No VIP available CA VA
rs17661089 NC_000005.10:g.56810169A>G, NC_000005.9:g.56105996A>G, NG_031884.1:g.97A>G, rs57476699
A > G
SNP
No VIP available No Clinical Annotations available VA
rs1799793 NC_000019.10:g.45364001C>T, NC_000019.9:g.45867259C>T, NG_007067.2:g.11587G>A, NM_000400.3:c.934G>A, NM_001130867.1:c.862G>A, NP_000391.1:p.Asp312Asn, NP_001124339.1:p.Asp288Asn, XM_005258639.1:c.862G>A, XM_005258640.1:c.700G>A, XM_005258641.1:c.196G>A, XM_005258642.1:c.934G>A, XM_011526611.1:c.856G>A, XP_005258696.1:p.Asp288Asn, XP_005258697.1:p.Asp234Asn, XP_005258698.1:p.Asp66Asn, XP_005258699.1:p.Asp312Asn, XP_011524913.1:p.Asp286Asn, XR_935763.1:n.981G>A, rs3916814, rs58989209
C > T
SNP
D312N
rs1799931 NC_000008.10:g.18258370G>A, NC_000008.11:g.18400860G>A, NG_012246.1:g.14616G>A, NM_000015.2:c.857G>A, NP_000006.2:p.Gly286Glu, XM_011544358.1:c.857G>A, XP_011542660.1:p.Gly286Glu, rs17693862, rs4646270, rs52802193, rs58803786
G > A
SNP
G286E
No VIP available No Clinical Annotations available VA
rs1800440 NC_000002.11:g.38298139T>C, NC_000002.12:g.38070996T>C, NG_008386.2:g.10106A>G, NM_000104.3:c.1358A>G, NP_000095.2:p.Asn453Ser, rs17405302, rs386545580, rs4134586, rs4986886, rs56879535
T > C
SNP
N453S
No VIP available No Clinical Annotations available VA
rs1801133 NC_000001.10:g.11856378G>A, NC_000001.11:g.11796321G>A, NG_013351.1:g.14783C>T, NM_005957.4:c.665C>T, NP_005948.3:p.Ala222Val, XM_005263458.1:c.788C>T, XM_005263458.2:c.788C>T, XM_005263459.1:c.734C>T, XM_005263460.1:c.665C>T, XM_005263460.3:c.665C>T, XM_005263461.1:c.665C>T, XM_005263461.3:c.665C>T, XM_005263462.1:c.665C>T, XM_005263462.3:c.665C>T, XM_005263463.1:c.419C>T, XM_005263463.2:c.419C>T, XM_011541495.1:c.785C>T, XM_011541496.1:c.788C>T, XP_005263515.1:p.Ala263Val, XP_005263516.1:p.Ala245Val, XP_005263517.1:p.Ala222Val, XP_005263518.1:p.Ala222Val, XP_005263519.1:p.Ala222Val, XP_005263520.1:p.Ala140Val, XP_011539797.1:p.Ala262Val, XP_011539798.1:p.Ala263Val, rs386545618, rs4134713, rs59514310
G > A
SNP
A222V
No VIP available No Clinical Annotations available VA
rs1805087 NC_000001.10:g.237048500A>G, NC_000001.11:g.236885200A>G, NG_008959.1:g.94920A>G, NM_000254.2:c.2756A>G, NM_001291939.1:c.2603A>G, NM_001291940.1:c.1535A>G, NP_000245.2:p.Asp919Gly, NP_001278868.1:p.Asp868Gly, NP_001278869.1:p.Asp512Gly, XM_005273140.1:c.2924A>G, XM_005273141.1:c.2753A>G, XM_005273141.3:c.2753A>G, XM_005273142.1:c.2666A>G, XM_005273143.1:c.2603A>G, XM_005273144.1:c.2318A>G, XM_005273145.1:c.1118A>G, XM_006711769.2:c.2756A>G, XM_006711770.1:c.1820A>G, XM_011544193.1:c.2567A>G, XM_011544194.1:c.2924A>G, XP_005273197.1:p.Asp975Gly, XP_005273198.1:p.Asp918Gly, XP_005273199.1:p.Asp889Gly, XP_005273200.1:p.Asp868Gly, XP_005273201.1:p.Asp773Gly, XP_005273202.1:p.Asp373Gly, XP_006711832.1:p.Asp919Gly, XP_006711833.1:p.Asp607Gly, XP_011542495.1:p.Asp856Gly, XP_011542496.1:p.Asp975Gly, rs17658739, rs56618494, rs61036243
A > G
SNP
D919G
No VIP available CA VA
rs1871450 NC_000010.10:g.73772014G>A, NC_000010.11:g.72012256G>A, NG_012635.1:g.52895G>A, NM_004273.4:c.*3785G>A, XM_006718075.2:c.*3785G>A, XM_011540369.1:c.*3785G>A, rs56737352
G > A
SNP
No VIP available CA VA
rs1883322 NC_000006.11:g.35369806C>T, NC_000006.12:g.35402029C>T, NG_012345.1:g.64472C>T, NM_001171818.1:c.-102+4436C>T, NM_001171819.1:c.14-18098C>T, NM_001171820.1:c.-101-8958C>T, NM_006238.4:c.-101-8958C>T, NM_177435.2:c.-101-8958C>T, XM_005249191.1:c.-101-8958C>T, XM_005249192.1:c.-102+4436C>T, XM_005249193.1:c.-101-8958C>T, XM_005249194.1:c.-101-8958C>T, XM_006715120.1:c.-101-8958C>T, XM_006715121.1:c.-101-8958C>T, XM_006715123.1:c.-101-8958C>T, XM_011514707.1:c.-101-8958C>T, XM_011514708.1:c.-101-8958C>T, XM_011514709.1:c.-102+4436C>T, XM_011514710.1:c.-101-8958C>T, XM_011514711.1:c.-101-8958C>T, XM_011514712.1:c.-101-8958C>T, XM_011514713.1:c.-101-8958C>T, rs386547869
C > T
SNP
No VIP available No Clinical Annotations available VA
rs1934951 NC_000010.10:g.96798548C>T, NC_000010.11:g.95038791C>T, NG_007972.1:g.35707G>A, NM_000770.3:c.1291+106G>A, NM_001198853.1:c.1081+106G>A, NM_001198854.1:c.985+106G>A, NM_001198855.1:c.1081+106G>A, XR_246073.1:n.1426+106G>A, XR_945610.1:n.1426+106G>A, rs60958510
C > T
SNP
No VIP available CA VA
rs1937840 NC_000010.10:g.5141307C>G, NC_000010.11:g.5099115C>G, NM_001253908.1:c.448-212C>G, NM_003739.5:c.448-212C>G, XM_005252637.1:c.379-212C>G, XM_005277677.1:c.379-212C>G, rs17305068
C > G
SNP
No VIP available CA VA
rs2016520 NC_000006.11:g.35378778C>T, NC_000006.12:g.35411001C>T, NG_012345.1:g.73444C>T, NM_001171818.1:c.-87C>T, NM_001171819.1:c.14-9126C>T, NM_001171820.1:c.-87C>T, NM_006238.4:c.-87C>T, NM_177435.2:c.-87C>T, XM_005249191.1:c.-87C>T, XM_005249192.1:c.-87C>T, XM_005249193.1:c.-87C>T, XM_005249194.1:c.-87C>T, XM_006715120.1:c.-87C>T, XM_006715121.1:c.-87C>T, XM_006715123.1:c.-87C>T, XM_011514707.1:c.-87C>T, XM_011514708.1:c.-87C>T, XM_011514709.1:c.-87C>T, XM_011514710.1:c.-87C>T, XM_011514711.1:c.-87C>T, XM_011514712.1:c.-87C>T, XM_011514713.1:c.-87C>T, rs17847868, rs60471661
C > T
SNP
No VIP available No Clinical Annotations available VA
rs2032582 NC_000007.13:g.87160618A>C, NC_000007.13:g.87160618A>T, NC_000007.14:g.87531302A>C, NC_000007.14:g.87531302A>T, NG_011513.1:g.186947T>A, NG_011513.1:g.186947T>G, NM_000927.4:c.2677T>A, NM_000927.4:c.2677T>G, NP_000918.2:p.Ser893Ala, NP_000918.2:p.Ser893Thr, rs10228331, rs2229106, rs386553610, rs57135550, rs9641018
A > C
SNP
S893A
No VIP available No Clinical Annotations available VA
rs2072671 NC_000001.10:g.20915701A>C, NC_000001.11:g.20589208A>C, NM_001785.2:c.79A>C, NP_001776.1:p.Lys27Gln, rs57221291
A > C
SNP
K27Q
No VIP available CA VA
rs2227291 NC_000023.10:g.77268502G>C, NC_000023.11:g.78013005G>C, NG_013224.2:g.107309G>C, NM_000052.6:c.2299G>C, NM_001282224.1:c.2172+1331G>C, NP_000043.4:p.Val767Leu, NR_104109.1:n.322-18395G>C, NW_003871101.3:g.570267G>C, XM_005262147.1:c.2299G>C, XM_005262148.1:c.2215G>C, XM_005262149.1:c.2299G>C, XM_005262150.1:c.2299G>C, XM_005277809.1:c.2299G>C, XM_005277810.1:c.2215G>C, XM_005277811.1:c.2299G>C, XM_005277812.1:c.2299G>C, XP_005262204.1:p.Val767Leu, XP_005262205.1:p.Val739Leu, XP_005262206.1:p.Val767Leu, XP_005262207.1:p.Val767Leu, XP_005277866.1:p.Val767Leu, XP_005277867.1:p.Val739Leu, XP_005277868.1:p.Val767Leu, XP_005277869.1:p.Val767Leu, rs16978770, rs55864810, rs60987629, rs61263114
G > C
SNP
V767L
No VIP available CA VA
rs2227310 NC_000010.10:g.115489152C>G, NC_000010.11:g.113729393C>G, NM_001227.4:c.765C>G, NM_001267056.1:c.765C>G, NM_001267057.1:c.1020C>G, NM_001267058.1:c.690C>G, NM_033338.5:c.864C>G, NM_033339.4:c.765C>G, NM_033340.3:c.731C>G, NP_001218.1:p.Asp255Glu, NP_001253985.1:p.Asp255Glu, NP_001253986.1:p.Asp340Glu, NP_001253987.1:p.Asp230Glu, NP_203124.1:p.Asp288Glu, NP_203125.1:p.Asp255Glu, NP_203126.1:p.Thr244Ser, XM_006718017.2:c.807C>G, XM_006718018.1:c.789C>G, XM_011540259.1:c.864C>G, XM_011540260.1:c.666C>G, XP_006718080.1:p.Asp269Glu, XP_006718081.1:p.Asp263Glu, XP_011538561.1:p.Asp288Glu, XP_011538562.1:p.Asp222Glu, rs56575824, rs58736298, rs58910029
C > G
SNP
D255E/S
No VIP available CA VA
rs2234753 NC_000009.11:g.137293761G>A, NC_000009.12:g.134401915G>A, NM_001291920.1:c.198+33G>A, NM_002957.5:c.279+33G>A, XM_005263408.1:c.279+33G>A, XM_005263409.1:c.198+33G>A, rs2266677, rs2274451, rs34093403
G > A
SNP
No VIP available CA VA
rs2234922 NC_000001.10:g.226026406A>G, NC_000001.11:g.225838705A>G, NG_009776.1:g.33610A>G, NM_000120.3:c.416A>G, NM_001136018.3:c.416A>G, NM_001291163.1:c.416A>G, NP_000111.1:p.His139Arg, NP_001129490.1:p.His139Arg, NP_001278092.1:p.His139Arg, XM_005273085.1:c.416A>G, XP_005273142.1:p.His139Arg, rs59975602
A > G
SNP
H139R
No VIP available CA VA
rs2238472 NC_000016.10:g.16157742C=, NC_000016.10:g.16157742C>T, NC_000016.9:g.16251599C>T, NG_007558.2:g.70730G=, NG_007558.2:g.70730G>A, NM_001171.5:c.3803G=, NM_001171.5:c.3803G>A, NP_001162.4:p.Arg1268=, NP_001162.4:p.Arg1268Gln, NT_187607.1:g.1815671T=, NT_187607.1:g.1815671T>C, XM_011522479.1:c.3770G=, XM_011522479.1:c.3770G>A, XM_011522480.1:c.3461G=, XM_011522480.1:c.3461G>A, XM_011522481.1:c.3461G=, XM_011522481.1:c.3461G>A, XM_011546696.1:c.3461A=, XM_011546696.1:c.3461A>G, XM_011546697.1:c.3461A=, XM_011546697.1:c.3461A>G, XP_011520781.1:p.Arg1257=, XP_011520781.1:p.Arg1257Gln, XP_011520782.1:p.Arg1154=, XP_011520782.1:p.Arg1154Gln, XP_011520783.1:p.Arg1154=, XP_011520783.1:p.Arg1154Gln, XP_011544998.1:p.Gln1154=, XP_011544998.1:p.Gln1154Arg, XP_011544999.1:p.Gln1154=, XP_011544999.1:p.Gln1154Arg, XR_243279.1:n.4220G>A, XR_932836.1:n.4038G=, XR_932836.1:n.4038G>A, XR_932837.1:n.3839G=, XR_932837.1:n.3839G>A, XR_932838.1:n.3839G=, XR_932838.1:n.3839G>A, XR_933133.1:n.-1848C>T, XR_933133.1:n.-1848T>C, XR_933134.1:n.539-2039C>T, XR_933134.1:n.539-2039T>C, XR_951901.1:n.4036A=, XR_951901.1:n.4036A>G, XR_951902.1:n.3836A=, XR_951902.1:n.3836A>G, XR_951903.1:n.3837A=, XR_951903.1:n.3837A>G, XR_951922.1:n.-1847C>T, XR_951922.1:n.-1847T>C, XR_951923.1:n.539-2038C>T, XR_951923.1:n.539-2038T>C, rs117535034, rs17289934, rs386562149, rs527236052, rs52824827, rs60072648
C > T
SNP
R1268Q
No VIP available CA VA
rs2250242 NC_000009.11:g.117103973A>G, NC_000009.12:g.114341693A>G, NM_001317950.1:c.3907T>C, NM_001317952.1:c.3550T>C, NM_030767.5:c.3907T>C, NP_001304879.1:p.Ser1303Pro, NP_001304881.1:p.Ser1184Pro, NP_110394.3:p.Ser1303Pro, XM_005252243.1:c.3907T>C, XM_005252244.1:c.3907T>C, XM_005252244.2:c.3907T>C, XM_005252245.1:c.3907T>C, XM_005252246.1:c.3907T>C, XM_005252247.1:c.3907T>C, XM_005252247.3:c.3907T>C, XM_005252248.1:c.3811T>C, XM_006717294.1:c.3907T>C, XM_011519059.1:c.3907T>C, XM_011519060.1:c.3754T>C, XM_011519061.1:c.3706T>C, XM_011519062.1:c.3664T>C, XM_011519063.1:c.3550T>C, XM_011519065.1:c.3784T>C, XP_005252300.1:p.Ser1303Pro, XP_005252301.1:p.Ser1303Pro, XP_005252302.1:p.Ser1303Pro, XP_005252303.1:p.Ser1303Pro, XP_005252304.1:p.Ser1303Pro, XP_005252305.1:p.Ser1271Pro, XP_006717357.1:p.Ser1303Pro, XP_011517361.1:p.Ser1303Pro, XP_011517362.1:p.Ser1252Pro, XP_011517363.1:p.Ser1236Pro, XP_011517364.1:p.Ser1222Pro, XP_011517365.1:p.Ser1184Pro, XP_011517367.1:p.Ser1262Pro, XR_929844.1:n.4143T>C, XR_929845.1:n.4143T>C, XR_929846.1:n.4036T>C, rs116882987, rs17857447, rs52828574, rs59133154
A > G
SNP
S1303P
No VIP available CA VA
rs2273618 NC_000020.10:g.43052570T>C, NC_000020.11:g.44423930T>C, NG_009818.1:g.73130T>C, NM_000457.4:c.893-88T>C, NM_001030003.2:c.827-88T>C, NM_001030004.2:c.827-88T>C, NM_001258355.1:c.872-88T>C, NM_001287182.1:c.818-88T>C, NM_001287183.1:c.818-88T>C, NM_001287184.1:c.818-88T>C, NM_175914.4:c.827-88T>C, NM_178849.2:c.893-88T>C, NM_178850.2:c.893-88T>C, XM_005260407.1:c.1010-88T>C, XM_005260407.2:c.1010-88T>C, XM_011528797.1:c.941-88T>C, XM_011528798.1:c.941-88T>C, rs3212206
T > C
SNP
No VIP available CA VA
rs2292954 NC_000016.10:g.89546715A>G, NC_000016.9:g.89613123A>G, NG_008082.1:g.43319A>G, NM_003119.3:c.1507A>G, NP_003110.1:p.Thr503Ala, XM_005256320.1:c.-236A>G, XM_006721264.2:c.1507A>G, XP_006721327.1:p.Thr503Ala, rs17404897, rs17775132, rs3205047, rs52815392, rs59421193
A > G
SNP
T503A
No VIP available CA VA
rs2301159 NC_000013.10:g.103697728G>A, NC_000013.11:g.103045378G>A, NG_016648.1:g.26469C>T, NM_000452.2:c.*755C>T, rs60680900
G > A
SNP
No VIP available CA VA
rs2501873 NC_000001.10:g.161204538C>T, NC_000001.11:g.161234748C>T, NG_029113.1:g.8463G>A, NM_001077469.2:c.238+1099G>A, NM_001077470.2:c.151+1099G>A, NM_001077471.2:c.238+1099G>A, NM_001077472.2:c.151+1099G>A, NM_001077473.2:c.151+1099G>A, NM_001077474.2:c.238+1099G>A, NM_001077475.2:c.151+1099G>A, NM_001077476.2:c.151+1099G>A, NM_001077477.2:c.151+1099G>A, NM_001077478.2:c.238+1099G>A, NM_001077479.2:c.151+1099G>A, NM_001077480.2:c.238+1099G>A, NM_001077481.2:c.238+1099G>A, NM_001077482.2:c.238+1099G>A, NM_005122.4:c.238+1099G>A, XM_005245693.1:c.454+1099G>A, XM_005245693.3:c.454+1099G>A, XM_005245694.1:c.454+1099G>A, XM_005245694.3:c.454+1099G>A, XM_005245695.1:c.454+1099G>A, XM_005245696.1:c.454+1099G>A, XM_005245697.1:c.238+1099G>A, XM_005245697.3:c.238+1099G>A, XM_005245698.1:c.454+1099G>A, XM_005245699.1:c.454+1099G>A, XM_011510237.1:c.454+1099G>A, rs57345476, rs74230383
C > T
SNP
No VIP available CA VA
rs2502815 NC_000001.10:g.161203227G>A, NC_000001.11:g.161233437G>A, NG_029113.1:g.9774C>T, NM_001077469.2:c.239-99C>T, NM_001077470.2:c.152-99C>T, NM_001077471.2:c.239-99C>T, NM_001077472.2:c.152-99C>T, NM_001077473.2:c.152-99C>T, NM_001077474.2:c.239-99C>T, NM_001077475.2:c.152-99C>T, NM_001077476.2:c.152-99C>T, NM_001077477.2:c.152-99C>T, NM_001077478.2:c.239-99C>T, NM_001077479.2:c.152-99C>T, NM_001077480.2:c.239-99C>T, NM_001077481.2:c.239-99C>T, NM_001077482.2:c.239-99C>T, NM_005122.4:c.239-99C>T, XM_005245693.1:c.455-99C>T, XM_005245693.3:c.455-99C>T, XM_005245694.1:c.455-99C>T, XM_005245694.3:c.455-99C>T, XM_005245695.1:c.455-99C>T, XM_005245696.1:c.455-99C>T, XM_005245697.1:c.239-99C>T, XM_005245697.3:c.239-99C>T, XM_005245698.1:c.455-1963C>T, XM_005245699.1:c.455-1963C>T, XM_011510237.1:c.455-99C>T, rs58399464
G > A
SNP
No VIP available No Clinical Annotations available VA
rs25487 NC_000019.10:g.43551574T>C, NC_000019.9:g.44055726T>C, NG_033799.1:g.29005A>G, NM_006297.2:c.1196A>G, NP_006288.2:p.Gln399Arg, rs11553658, rs17435395, rs3817410, rs386493716, rs57378728
T > C
SNP
Q399R
No VIP available CA VA
rs2740574 NC_000007.13:g.99382096C>T, NC_000007.14:g.99784473C>T, NG_008421.1:g.4713G>A, NM_001202855.2:c.-392G>A, NM_017460.5:c.-392G>A, XM_011515841.1:c.-392G>A, XM_011515842.1:c.-392G>A, rs3176920, rs36231114, rs59393892
C > T
SNP
No VIP available No Clinical Annotations available VA
rs2762939 NC_000020.10:g.52781251G>C, NC_000020.11:g.54164712G>C, NG_008334.1:g.14266C>G, NM_000782.4:c.733-149C>G, NM_001128915.1:c.733-149C>G, XM_005260304.1:c.733-149C>G, XM_005260304.3:c.733-149C>G, XM_005260305.1:c.733-149C>G, rs57991016
G > C
SNP
No VIP available CA VA
rs2849380 NC_000018.10:g.63312127C>T, NC_000018.9:g.60979360C>T, NG_009361.1:g.12254G>A, NM_000633.2:c.585+5955G>A, XM_005266735.1:c.585+5955G>A, XM_011526135.1:c.585+5955G>A, XR_245468.1:n.2249+5403G>A, XR_935246.1:n.1697+5955G>A, XR_935247.1:n.1697+5955G>A, XR_935248.1:n.1476+5955G>A, rs117552567, rs17759918, rs386575265, rs59530358
C > T
SNP
No VIP available CA VA
rs28738963 unknown
No VIP available No Clinical Annotations available VA
rs3025030 NC_000006.11:g.43750587G>C, NC_000006.12:g.43782850G>C, NG_008732.1:g.17635G>C, NM_001025366.2:c.1217+763G>C, NM_001025367.2:c.1148+763G>C, NM_001025368.2:c.1094+763G>C, NM_001025369.2:c.1059+798G>C, NM_001025370.2:c.963-1691G>C, NM_001033756.2:c.1094+763G>C, NM_001171622.1:c.933-1691G>C, NM_001171623.1:c.677+763G>C, NM_001171624.1:c.626+763G>C, NM_001171625.1:c.608+763G>C, NM_001171626.1:c.554+763G>C, NM_001171627.1:c.519+798G>C, NM_001171628.1:c.423-1691G>C, NM_001171629.1:c.554+763G>C, NM_001171630.1:c.393-1691G>C, NM_001204384.1:c.495-1691G>C, NM_001204385.1:c.1035-1691G>C, NM_001287044.1:c.470+763G>C, NM_001317010.1:c.554+763G>C, NM_003376.5:c.1166+763G>C, XM_005249363.1:c.470+763G>C, rs16896816, rs3799959, rs61356923
G > C
SNP
No VIP available No Clinical Annotations available VA
rs3025033 NC_000006.11:g.43751075A>G, NC_000006.12:g.43783338A>G, NG_008732.1:g.18123A>G, NM_001025366.2:c.1218-1203A>G, NM_001025367.2:c.1149-1203A>G, NM_001025368.2:c.1095-1203A>G, NM_001025369.2:c.1060-1203A>G, NM_001025370.2:c.963-1203A>G, NM_001033756.2:c.1094+1251A>G, NM_001171622.1:c.933-1203A>G, NM_001171623.1:c.678-1203A>G, NM_001171624.1:c.627-1203A>G, NM_001171625.1:c.609-1203A>G, NM_001171626.1:c.555-1203A>G, NM_001171627.1:c.520-1203A>G, NM_001171628.1:c.423-1203A>G, NM_001171629.1:c.554+1251A>G, NM_001171630.1:c.393-1203A>G, NM_001204384.1:c.495-1203A>G, NM_001204385.1:c.1035-1203A>G, NM_001287044.1:c.471-1203A>G, NM_001317010.1:c.555-1203A>G, NM_003376.5:c.1167-1203A>G, XM_005249363.1:c.471-1203A>G, rs3778502, rs59547322
A > G
SNP
No VIP available No Clinical Annotations available VA
rs3025039 NC_000006.11:g.43752536C>T, NC_000006.12:g.43784799C>T, NG_008732.1:g.19584C>T, NM_001025366.2:c.*237C>T, NM_001025367.2:c.*237C>T, NM_001025368.2:c.*237C>T, NM_001025369.2:c.*253C>T, NM_001025370.2:c.*237C>T, NM_001033756.2:c.*171C>T, NM_001171622.1:c.*237C>T, NM_001171623.1:c.*237C>T, NM_001171624.1:c.*237C>T, NM_001171625.1:c.*237C>T, NM_001171626.1:c.*237C>T, NM_001171627.1:c.*253C>T, NM_001171628.1:c.*237C>T, NM_001171629.1:c.*171C>T, NM_001171630.1:c.*237C>T, NM_001204384.1:c.*237C>T, NM_001204385.1:c.*237C>T, NM_001287044.1:c.*237C>T, NM_001317010.1:c.*171C>T, NM_003376.5:c.*237C>T, XM_005249363.1:c.*237C>T, rs11575898
C > T
SNP
No VIP available No Clinical Annotations available VA
rs3212935
T > C
SNP
No VIP available CA VA
rs3212986 NC_000019.10:g.45409478C>A, NC_000019.9:g.45912736C>A, NG_015839.2:g.74351G>T, NM_001166049.1:c.*197G>T, NM_001297590.1:c.1516C>A, NM_001983.3:c.*197G>T, NM_012099.1:c.1510C>A, NP_001284519.1:p.Gln506Lys, NP_036231.1:p.Gln504Lys, XM_005258425.1:c.1516C>A, XM_005258638.1:c.*197G>T, XP_005258482.1:p.Gln506Lys, rs386580934, rs60333438
C > A
C > T
SNP
Q506K
No VIP available No Clinical Annotations available VA
rs351855 NC_000005.10:g.177093242G>A, NC_000005.9:g.176520243G>A, NG_012067.1:g.11323G>A, NM_001291980.1:c.1097+65G>A, NM_002011.4:c.1162G>A, NM_022963.3:c.1058-90G>A, NM_213647.2:c.1162G>A, NP_002002.3:p.Gly388Arg, NP_998812.1:p.Gly388Arg, XM_005265837.1:c.1258G>A, XM_005265838.1:c.1162G>A, XM_005265838.2:c.1162G>A, XM_005265839.1:c.1097+65G>A, XM_011534464.1:c.1255G>A, XM_011534465.1:c.844G>A, XP_005265894.1:p.Gly420Arg, XP_005265895.1:p.Gly388Arg, XP_011532766.1:p.Gly419Arg, XP_011532767.1:p.Gly282Arg, XR_941090.1:n.1207G>A, rs117475361, rs56695235
G > A
SNP
G388R
No VIP available CA VA
rs35864111 NC_000006.11:g.43736537_43736538insG, NC_000006.12:g.43768800_43768801insG, NG_008732.1:g.3585_3586insG, NM_001025366.2:c.-1907_-1906insG, NM_001025367.2:c.-1907_-1906insG, NM_001025368.2:c.-1907_-1906insG, NM_001025369.2:c.-1907_-1906insG, NM_001025370.2:c.-1907_-1906insG, NM_001033756.2:c.-1907_-1906insG, NM_001171622.1:c.-1907_-1906insG, NM_001171623.1:c.-2447_-2446insG, NM_001171624.1:c.-2447_-2446insG, NM_001171625.1:c.-2447_-2446insG, NM_001171626.1:c.-2447_-2446insG, NM_001171627.1:c.-2447_-2446insG, NM_001171628.1:c.-2447_-2446insG, NM_001171629.1:c.-2447_-2446insG, NM_001171630.1:c.-2447_-2446insG, NM_001204384.1:c.-2447_-2446insG, NM_001204385.1:c.-1907_-1906insG, NM_001317010.1:c.-2447_-2446insG, NM_003376.5:c.-1907_-1906insG, rs144735486, rs36208053, rs369394745, rs372156176
- > G
indel
No VIP available CA VA
rs3732359 NC_000003.11:g.119536429G>A, NC_000003.12:g.119817582G>A, NG_011856.1:g.42099G>A, NM_003889.3:c.*370G>A, NM_022002.2:c.*370G>A, NM_033013.2:c.*370G>A, XM_005247866.1:c.995+1751G>A, rs56590291, rs57193083
G > A
SNP
No VIP available CA VA
rs3732360 NC_000003.11:g.119536581C>T, NC_000003.12:g.119817734C>T, NG_011856.1:g.42251C>T, NM_003889.3:c.*522C>T, NM_022002.2:c.*522C>T, NM_033013.2:c.*522C>T, XM_005247866.1:c.995+1903C>T, rs386584908, rs57419996
C > T
SNP
No VIP available CA VA
rs3734254 NC_000006.11:g.35395010C>T, NC_000006.12:g.35427233C>T, NG_012345.1:g.89676C>T, NM_001171818.1:c.*1154C>T, NM_001171819.1:c.*1154C>T, NM_001171820.1:c.*1154C>T, NM_006238.4:c.*1154C>T, XM_005249191.1:c.*1154C>T, XM_005249192.1:c.*1154C>T, XM_005249193.1:c.*1154C>T, XM_005249194.1:c.*1266C>T, XM_006715120.1:c.*1154C>T, XM_006715121.1:c.*1154C>T, XM_006715123.1:c.*1154C>T, XM_011514707.1:c.*1154C>T, XM_011514708.1:c.*1154C>T, XM_011514709.1:c.*1154C>T, XM_011514710.1:c.*1154C>T, XM_011514711.1:c.*1154C>T, XM_011514712.1:c.*1154C>T, XM_011514713.1:c.*1266C>T, rs17847858, rs56760848
C > T
SNP
No VIP available CA VA
rs3746574 NC_000020.10:g.43058018T>C, NC_000020.11:g.44429378T>C, NG_009818.1:g.78578T>C, NM_000457.4:c.1283-145T>C, NM_001030003.2:c.1187-145T>C, NM_001258355.1:c.1262-145T>C, NM_001287182.1:c.1178-145T>C, NM_001287183.1:c.1208-145T>C, NM_175914.4:c.1217-145T>C, NM_178849.2:c.1253-145T>C, XM_005260407.1:c.1400-145T>C, XM_005260407.2:c.1400-145T>C, XM_011528797.1:c.1301-145T>C, XM_011528798.1:c.1331-145T>C, rs17756030
T > C
SNP
No VIP available No Clinical Annotations available VA
rs3768728 NC_000002.11:g.46590791T>C, NC_000002.12:g.46363652T>C, NG_016000.1:g.71251T>C, NM_001430.4:c.779+2562T>C, XM_011532698.1:c.818+2562T>C, rs60273833
T > C
SNP
No VIP available No Clinical Annotations available VA
rs3787554 NC_000020.10:g.52782680G>A, NC_000020.11:g.54166141G>A, NG_008334.1:g.12837C>T, NM_000782.4:c.641-308C>T, NM_001128915.1:c.641-308C>T, XM_005260304.1:c.641-308C>T, XM_005260304.3:c.641-308C>T, XM_005260305.1:c.641-308C>T
G > A
SNP
No VIP available CA VA
rs3814058 NC_000003.11:g.119537291T>C, NC_000003.12:g.119818444T>C, NG_011856.1:g.42961T>C, NM_003889.3:c.*1232T>C, NM_022002.2:c.*1232T>C, NM_033013.2:c.*1232T>C, XM_005247866.1:c.995+2613T>C, rs60918337
T > C
SNP
No VIP available No Clinical Annotations available VA
rs3834935 NC_000012.11:g.21069528_21069529insA, NC_000012.12:g.20916594_20916595insA, NG_032071.1:g.110891_110892insA, NM_019844.3:c.*347_*348insA, XM_005253347.1:c.*347_*348insA, rs144914226, rs150101308, rs4149169, rs66461351
- > A
- > T
indel
No VIP available CA VA
rs4148943 NC_000010.10:g.73769507C>T, NC_000010.11:g.72009749C>T, NG_012635.1:g.50388C>T, NM_004273.4:c.*1278C>T, XM_006718075.2:c.*1278C>T, XM_011540369.1:c.*1278C>T, rs60633426
C > T
SNP
No VIP available CA VA
rs4148945 NC_000010.10:g.73769590C>T, NC_000010.11:g.72009832C>T, NG_012635.1:g.50471C>T, NM_004273.4:c.*1361C>T, XM_006718075.2:c.*1361C>T, XM_011540369.1:c.*1361C>T, rs60773476
C > T
SNP
No VIP available CA VA
rs4148947 NC_000010.10:g.73770117T>C, NC_000010.11:g.72010359T>C, NG_012635.1:g.50998T>C, NM_004273.4:c.*1888T>C, XM_006718075.2:c.*1888T>C, XM_011540369.1:c.*1888T>C, rs17297474, rs61571543
T > C
SNP
No VIP available CA VA
rs4148950 NC_000010.10:g.73771706G>A, NC_000010.11:g.72011948G>A, NG_012635.1:g.52587G>A, NM_004273.4:c.*3477G>A, XM_006718075.2:c.*3477G>A, XM_011540369.1:c.*3477G>A, rs17297495, rs57830379
G > A
SNP
No VIP available CA VA
rs4149056 NC_000012.11:g.21331549T>C, NC_000012.12:g.21178615T>C, NG_011745.1:g.52422T>C, NM_006446.4:c.521T>C, NP_006437.3:p.Val174Ala, rs52816141, rs60037639
T > C
SNP
V174A
No VIP available No Clinical Annotations available VA
rs4149118 NC_000012.11:g.21011581G>A, NC_000012.12:g.20858647G>A, NG_032071.1:g.52944G>A, NM_019844.3:c.359+76G>A, XM_005253347.1:c.359+76G>A, rs16923248, rs57835468
G > A
SNP
No VIP available CA VA
rs4353229 NC_000010.10:g.115489589T>C, NC_000010.11:g.113729830T>C, NM_001227.4:c.*290T>C, NM_001267056.1:c.*290T>C, NM_001267057.1:c.*290T>C, NM_001267058.1:c.*290T>C, NM_033338.5:c.*290T>C, NM_033339.4:c.*290T>C, NM_033340.3:c.*406T>C, XM_006718017.2:c.*290T>C, XM_006718018.1:c.*290T>C, XM_011540259.1:c.*290T>C, XM_011540260.1:c.*290T>C, rs57355355
T > C
SNP
No VIP available No Clinical Annotations available VA
rs45445694 NC_000018.10:g.657646_657673CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NC_000018.9:g.657646_657673CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NG_028255.1:g.5043_5070CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NM_001012716.2:c.*34+169_*34+196CGGGACGGAGGCAGGCCAAGTGGCGCGG[2][3][4][7][8][9], NM_001071.2:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], XM_005258137.1:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], XM_005258138.1:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9]
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)4
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)7
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)8
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)9
microsatellite
No VIP available CA VA
rs4646 NC_000015.10:g.51210647A>C, NC_000015.9:g.51502844A>C, NG_007982.1:g.132952T>G, NM_000103.3:c.*161T>G, NM_031226.2:c.*161T>G, XM_005254190.1:c.*161T>G, XM_005254191.1:c.*161T>G, XM_005254192.1:c.*161T>G, XR_932222.1:n.99-67336A>C, rs16964193, rs3191019, rs58335330
A > C
SNP
No VIP available CA VA
rs4646487 NC_000001.10:g.47279175C>T, NC_000001.11:g.46813503C>T, NG_007939.1:g.19506C>T, NM_000779.3:c.517C>T, NM_001099772.1:c.517C>T, NM_001319161.1:c.472C>T, NM_001319162.1:c.28C>T, NM_001319163.1:c.28C>T, NP_000770.2:p.Arg173Trp, NP_001093242.1:p.Arg173Trp, NP_001306090.1:p.Arg158Trp, NP_001306091.1:p.Arg10Trp, NP_001306092.1:p.Arg10Trp, NR_135003.1:n.601C>T, XM_005270540.1:c.472C>T, XM_005270541.1:c.28C>T, XM_011540831.1:c.472C>T, XM_011540832.1:c.517C>T, XM_011540833.1:c.-184C>T, XM_011540834.1:c.-181C>T, XP_005270597.1:p.Arg158Trp, XP_005270598.1:p.Arg10Trp, XP_011539133.1:p.Arg158Trp, XP_011539134.1:p.Arg173Trp, XR_946559.1:n.604C>T, rs57240062
C > -
C > T
SNP
R173W
No VIP available No Clinical Annotations available VA
rs4953344 NC_000002.11:g.46552458T>C, NC_000002.12:g.46325319T>C, NG_016000.1:g.32918T>C, NM_001430.4:c.27-21554T>C, XM_011532698.1:c.-493T>C, XR_940055.1:n.2355+10465A>G, rs17746007, rs56802594
T > C
SNP
No VIP available CA VA
rs518329 NC_000023.10:g.23695236T>C, NC_000023.11:g.23677119T>C, NG_012563.1:g.14592T>C, NM_006406.1:c.476+2013T>C, XM_005274438.1:c.434+2013T>C, rs1033051, rs57824784
T > C
SNP
No VIP available CA VA
rs544093 NC_000006.11:g.154457493G>T, NC_000006.12:g.154136358G>T, NG_021208.1:g.130858G>T, NM_001008503.2:c.1164+44886G>T, rs59335321
G > T
SNP
No VIP available CA VA
rs6130615 NC_000020.10:g.43059437C>T, NC_000020.11:g.44430797C>T, NG_009818.1:g.79997C>T, NM_000457.4:c.*1132C>T, NM_001030003.2:c.*1132C>T, NM_001258355.1:c.*1132C>T, NM_001287182.1:c.*1132C>T, NM_001287183.1:c.*1132C>T, NM_175914.4:c.*1132C>T, NM_178849.2:c.*1132C>T, XM_005260407.1:c.*1132C>T, XM_005260407.2:c.*1132C>T, XM_011528797.1:c.*1132C>T, XM_011528798.1:c.*1132C>T, rs56506806, rs56781780, rs57105197
C > T
SNP
No VIP available CA VA
rs62576288 NC_000009.11:g.137216737G>A, NC_000009.12:g.134324891G>A, NM_002957.5:c.-1741G>A, NW_004070868.1:g.138515G>A, XM_005263408.1:c.-1741G>A
G > A
SNP
No VIP available CA VA
rs6413517 NC_000009.11:g.137321256T>G, NC_000009.12:g.134429410T>G, NM_001291920.1:c.962+170T>G, NM_001291921.1:c.752+170T>G, NM_002957.5:c.1043+170T>G, XM_005263409.1:c.962+170T>G, rs34307245
T > G
SNP
No VIP available CA VA
rs6922548 NC_000006.11:g.35353523A>G, NC_000006.12:g.35385746A>G, NG_012345.1:g.48189A>G, NM_001171818.1:c.-197-11752A>G, NM_001171819.1:c.14-34381A>G, NM_001171820.1:c.-101-25241A>G, NM_006238.4:c.-101-25241A>G, NM_177435.2:c.-101-25241A>G, XM_005249191.1:c.-101-25241A>G, XM_005249192.1:c.-197-11752A>G, XM_005249193.1:c.-101-25241A>G, XM_005249194.1:c.-101-25241A>G, XM_006715120.1:c.-101-25241A>G, XM_006715121.1:c.-101-25241A>G, XM_006715123.1:c.-101-25241A>G, XM_011514707.1:c.-101-25241A>G, XM_011514708.1:c.-101-25241A>G, XM_011514709.1:c.-197-11752A>G, XM_011514710.1:c.-101-25241A>G, XM_011514711.1:c.-101-25241A>G, XM_011514712.1:c.-101-25241A>G, XM_011514713.1:c.-101-25241A>G
A > G
SNP
No VIP available CA VA
rs699947 NC_000006.11:g.43736389A>C, NC_000006.12:g.43768652A>C, NG_008732.1:g.3437A>C, NM_001025366.2:c.-2055A>C, NM_001025367.2:c.-2055A>C, NM_001025368.2:c.-2055A>C, NM_001025369.2:c.-2055A>C, NM_001025370.2:c.-2055A>C, NM_001033756.2:c.-2055A>C, NM_001171622.1:c.-2055A>C, NM_001171623.1:c.-2595A>C, NM_001171624.1:c.-2595A>C, NM_001171625.1:c.-2595A>C, NM_001171626.1:c.-2595A>C, NM_001171627.1:c.-2595A>C, NM_001171628.1:c.-2595A>C, NM_001171629.1:c.-2595A>C, NM_001171630.1:c.-2595A>C, NM_001204384.1:c.-2595A>C, NM_001204385.1:c.-2055A>C, NM_001317010.1:c.-2595A>C, NM_003376.5:c.-2055A>C, rs1310065, rs36208051, rs61399354
A > C
SNP
No VIP available CA VA
rs726501 NC_000005.10:g.56832039G>A, NC_000005.9:g.56127866G>A, NG_031884.1:g.21967G>A, NM_005921.1:c.482+15984G>A, XM_005248519.1:c.71+11223G>A, XM_005248519.3:c.104+11223G>A, XM_005248520.1:c.-8+14923G>A, XM_011543406.1:c.227+15704G>A, XM_011543407.1:c.482+15984G>A, XM_011543408.1:c.482+15984G>A, rs57031684
G > A
SNP
No VIP available CA VA
rs730720 NC_000010.10:g.73772762C>T, NC_000010.11:g.72013004C>T, NG_012635.1:g.53643C>T, NM_004273.4:c.*4533C>T, XM_006718075.2:c.*4533C>T, XM_011540369.1:c.*4533C>T, rs56903566
C > T
SNP
No VIP available CA VA
rs7311358 NC_000012.11:g.21015760G>A, NC_000012.12:g.20862826G>A, NG_032071.1:g.57123G>A, NM_019844.3:c.699G>A, NP_062818.1:p.Met233Ile, XM_005253347.1:c.699G>A, XP_005253404.1:p.Met233Ile, rs60001963
G > A
SNP
M233I
No VIP available CA VA
rs75114882 NC_000001.10:g.161207377A>G, NC_000001.11:g.161237587A>G, NG_029113.1:g.5624T>C, NM_001077469.2:c.-34+454T>C, NM_001077470.2:c.20+454T>C, NM_001077471.2:c.-34+454T>C, NM_001077472.2:c.20+454T>C, NM_001077473.2:c.20+454T>C, NM_001077474.2:c.-34+454T>C, NM_001077475.2:c.20+454T>C, NM_001077476.2:c.20+454T>C, NM_001077477.2:c.20+454T>C, NM_001077478.2:c.-34+454T>C, NM_001077479.2:c.20+454T>C, NM_001077480.2:c.-34+454T>C, NM_001077481.2:c.-34+454T>C, NM_001077482.2:c.-34+454T>C, NM_005122.4:c.-34+454T>C, XM_005245693.1:c.323+454T>C, XM_005245693.3:c.323+454T>C, XM_005245694.1:c.323+454T>C, XM_005245694.3:c.323+454T>C, XM_005245695.1:c.323+454T>C, XM_005245696.1:c.323+454T>C, XM_005245697.1:c.-34+454T>C, XM_005245697.3:c.-34+454T>C, XM_005245698.1:c.323+454T>C, XM_005245699.1:c.323+454T>C, XM_011510237.1:c.323+454T>C
A > G
SNP
rs776746 NC_000007.13:g.99270539C>T, NC_000007.14:g.99672916T>C, NG_007938.1:g.12083G=, NG_007938.1:g.12083G>A, NM_000777.4:c.219-237A>G, NM_000777.4:c.219-237G>A, NM_001190484.2:c.219-237A>G, NM_001190484.2:c.219-237G>A, NM_001291829.1:c.-253-1A>G, NM_001291829.1:c.-253-1G>A, NM_001291830.1:c.189-237A>G, NM_001291830.1:c.189-237G>A, NR_033807.2:n.717-1A>G, NR_033807.2:n.717-1G>A, NR_033808.1:n.689-1G>A, NR_033809.1:n.581-237G>A, NR_033810.1:n.689-1G>A, NR_033811.1:n.321-1G>A, NR_033812.1:n.321-1G>A, XM_005250169.1:c.189-237G>A, XM_005250170.1:c.-357-1G>A, XM_005250171.1:c.-253-1G>A, XM_005250172.1:c.-254G>A, XM_005250173.1:c.-331-237G>A, XM_005250198.1:c.806-4288C>T, XM_006715859.2:c.219-237A>G, XM_011515843.1:c.-254A>G, XM_011515844.1:c.-229-237A>G, XM_011515845.1:c.-463-1A>G, XM_011515846.1:c.-331-237A>G, XM_011515847.1:c.-571-1A>G, XR_927383.1:n.344-237A>G, XR_927402.1:n.1466+48736T>C, rs10361242, rs11266830, rs386613022, rs58244770
C > T
SNP
No VIP available CA VA
rs7769719 NC_000006.11:g.35362525G>A, NC_000006.12:g.35394748G>A, NG_012345.1:g.57191G>A, NM_001171818.1:c.-197-2750G>A, NM_001171819.1:c.14-25379G>A, NM_001171820.1:c.-101-16239G>A, NM_006238.4:c.-101-16239G>A, NM_177435.2:c.-101-16239G>A, XM_005249191.1:c.-101-16239G>A, XM_005249192.1:c.-197-2750G>A, XM_005249193.1:c.-101-16239G>A, XM_005249194.1:c.-101-16239G>A, XM_006715120.1:c.-101-16239G>A, XM_006715121.1:c.-101-16239G>A, XM_006715123.1:c.-101-16239G>A, XM_011514707.1:c.-101-16239G>A, XM_011514708.1:c.-101-16239G>A, XM_011514709.1:c.-197-2750G>A, XM_011514710.1:c.-101-16239G>A, XM_011514711.1:c.-101-16239G>A, XM_011514712.1:c.-101-16239G>A, XM_011514713.1:c.-101-16239G>A, rs57589726
G > A
SNP
No VIP available CA VA
rs7921977 NC_000010.10:g.115439569C>T, NC_000010.11:g.113679810C>T, NM_001227.4:c.-169C>T, NM_001267056.1:c.-1+461C>T, NM_001267057.1:c.56C>T, NM_033338.5:c.-177C>T, NM_033339.4:c.-243C>T, NM_033340.3:c.-1+461C>T, NP_001253986.1:p.Thr19Ile, XM_006718018.1:c.-8+461C>T, rs386479493, rs56841072
C > T
SNP
T19I
No VIP available No Clinical Annotations available VA
rs7995976 NC_000013.10:g.28941060A>C, NC_000013.11:g.28366923A>C, NG_012003.1:g.133206T>G, NM_002019.4:c.2117-9238T>G, rs61179897, rs9513092
A > C
SNP
No VIP available No Clinical Annotations available VA
rs833058 NC_000006.11:g.43731854C>T, NC_000006.12:g.43764117C>T, rs58522910
C > T
SNP
No VIP available No Clinical Annotations available VA
rs833061 NC_000006.11:g.43737486C>T, NC_000006.12:g.43769749C>T, NG_008732.1:g.4534C>T, NM_001025366.2:c.-958C>T, NM_001025367.2:c.-958C>T, NM_001025368.2:c.-958C>T, NM_001025369.2:c.-958C>T, NM_001025370.2:c.-958C>T, NM_001033756.2:c.-958C>T, NM_001171622.1:c.-958C>T, NM_001171623.1:c.-1498C>T, NM_001171624.1:c.-1498C>T, NM_001171625.1:c.-1498C>T, NM_001171626.1:c.-1498C>T, NM_001171627.1:c.-1498C>T, NM_001171628.1:c.-1498C>T, NM_001171629.1:c.-1498C>T, NM_001171630.1:c.-1498C>T, NM_001204384.1:c.-1498C>T, NM_001204385.1:c.-958C>T, NM_001317010.1:c.-1498C>T, NM_003376.5:c.-958C>T, rs36208046, rs60746584
C > T
SNP
No VIP available No Clinical Annotations available VA
rs833062 NC_000006.11:g.43737529T>C, NC_000006.12:g.43769792T>C, NG_008732.1:g.4577T>C, NM_001025366.2:c.-915T>C, NM_001025367.2:c.-915T>C, NM_001025368.2:c.-915T>C, NM_001025369.2:c.-915T>C, NM_001025370.2:c.-915T>C, NM_001033756.2:c.-915T>C, NM_001171622.1:c.-915T>C, NM_001171623.1:c.-1455T>C, NM_001171624.1:c.-1455T>C, NM_001171625.1:c.-1455T>C, NM_001171626.1:c.-1455T>C, NM_001171627.1:c.-1455T>C, NM_001171628.1:c.-1455T>C, NM_001171629.1:c.-1455T>C, NM_001171630.1:c.-1455T>C, NM_001204384.1:c.-1455T>C, NM_001204385.1:c.-915T>C, NM_001317010.1:c.-1455T>C, NM_003376.5:c.-915T>C
T > C
SNP
No VIP available CA VA
rs861539 NC_000014.8:g.104165753G>A, NC_000014.9:g.103699416G>A, NG_011516.1:g.21071C>T, NG_012307.1:g.75229G>A, NM_001100118.1:c.722C>T, NM_001100119.1:c.722C>T, NM_001130107.1:c.1782-1239G>A, NM_005432.3:c.722C>T, NM_182923.3:c.1651-1239G>A, NP_001093588.1:p.Thr241Met, NP_001093589.1:p.Thr241Met, NP_005423.1:p.Thr241Met, XM_005267599.1:c.1924-1239G>A, XM_005267600.1:c.*17-1239G>A, XM_005267602.1:c.1897-1239G>A, XM_005267603.1:c.*17-1239G>A, XM_005267604.1:c.1857-1239G>A, XM_005267605.1:c.1849-1239G>A, XM_005267606.1:c.*17-1239G>A, XM_005267607.1:c.1830-1239G>A, XM_005267608.1:c.1825-1239G>A, XM_005267609.1:c.1822-1239G>A, XM_005267610.1:c.*46-1239G>A, XM_005267612.1:c.*17-1239G>A, XM_005267613.1:c.1758-1239G>A, XM_005267614.1:c.1755-1239G>A, XM_005267615.1:c.1726-1239G>A, XM_005267616.1:c.*17-1239G>A, XM_005267617.1:c.1699-1239G>A, XM_005267618.1:c.*17-1239G>A, XM_005267624.1:c.1624-1239G>A, XM_005268045.1:c.722C>T, XM_005268046.1:c.722C>T, XM_005268047.1:c.722C>T, XM_011537138.1:c.722C>T, XP_005268102.1:p.Thr241Met, XP_005268103.1:p.Thr241Met, XP_005268104.1:p.Thr241Met, XP_011535440.1:p.Thr241Met, rs1734804, rs17435402, rs17850783, rs3212111, rs56934996
G > A
SNP
T241M
No VIP available CA VA
rs870995 NC_000003.11:g.178913006C>A, NC_000003.12:g.179195218C>A, NG_012113.2:g.51696C>A, NM_006218.2:c.-76-3532C>A, XM_006713658.2:c.-76-3532C>A, XM_011512894.1:c.-76-3532C>A, rs59793299
C > A
SNP
No VIP available CA VA
rs875858 NC_000016.10:g.70741552C>T, NC_000016.9:g.70775455C>T, NM_018052.3:c.1528+2871G>A, XM_005256038.1:c.1528+2871G>A, XM_005256038.2:c.1528+2871G>A, XM_005256039.1:c.1528+2871G>A, XM_005256040.1:c.1528+2871G>A, XM_005256041.1:c.1528+2871G>A, XM_005256041.2:c.1528+2871G>A, XM_011523223.1:c.1528+2871G>A, XM_011523224.1:c.1528+2871G>A, XM_011523225.1:c.1528+2871G>A, rs57476346
C > T
SNP
No VIP available CA VA
rs879207 NC_000017.10:g.3466596A>G, NC_000017.11:g.3563302A>G, rs17763222, rs56546739
A > G
SNP
No VIP available CA VA
rs9725457
G > A
SNP
No VIP available No Clinical Annotations available VA
rs9937 NC_000011.10:g.4138227A>G, NC_000011.9:g.4159457A>G, NG_027992.2:g.48534A>G, NM_001033.3:c.2223A>G, NM_001033.4:c.2223A>G, NM_001318064.1:c.1932A>G, NM_001318065.1:c.1209A>G, NP_001024.1:p.Thr741=, NP_001304993.1:p.Thr644=, NP_001304994.1:p.Thr403=, XM_005253058.1:c.1980A>G, XM_005253059.1:c.1932A>G, XM_011520277.1:c.1932A>G, XM_011520278.1:c.1557A>G, XM_011520279.1:c.1209A>G, XP_005253115.1:p.Thr660=, XP_005253116.1:p.Thr644=, XP_011518579.1:p.Thr644=, XP_011518580.1:p.Thr519=, XP_011518581.1:p.Thr403=, rs1042857, rs17295553, rs17349998, rs17398272, rs17850106, rs2228120, rs3177016, rs59628733
A > G
SNP
T741T
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Generic Names
  • Docetaxel anhydrous
  • Docetaxel, Trihydrate
  • TXL
  • docetaxel
Trade Names
  • Taxotere
Brand Mixture Names

PharmGKB Accession Id

PA449383

Type(s):

Drug

Description

Docetaxel is a clinically well established anti-mitotic chemotherapy medication used mainly for the treatment of breast, ovarian, and non-small cell lung cancer. Docetaxel binds to microtubules reversibly with high affinity and has a maximum stoichiometry of 1 mole docetaxel per mole tubulin in microtubules.

Source: Drug Bank

Indication

For the treatment of patients with locally advanced or metastatic breast cancer after failure of prior chemotherapy. Also used as a single agent in the treatment of patients with locally advanced or metastatic non-small cell lung cancer after failure of prior platinum-based chemotherapy. Lastly, for use, in combination with prednisone, in the treatment of patients with androgen independent (hormone refractory) metastatic prostate cancer.

Source: Drug Bank

Other Vocabularies

Information pulled from DrugBank has not been reviewed by PharmGKB.

Pharmacology, Interactions, and Contraindications

Mechanism of Action

Docetaxel interferes with the normal function of microtubule growth. Whereas drugs like colchicine cause the depolymerization of microtubules in vivo, docetaxel arrests their function by having the opposite effect; it hyper-stabilizes their structure. This destroys the cell's ability to use its cytoskeleton in a flexible manner. Specifically, docetaxel binds to the beta-subunit of tubulin. Tubulin is the "building block" of mictotubules, and the binding of docetaxel locks these building blocks in place. The resulting microtubule/docetaxel complex does not have the ability to disassemble. This adversely affects cell function because the shortening and lengthening of microtubules (termed dynamic instability) is necessary for their function as a transportation highway for the cell. Chromosomes, for example, rely upon this property of microtubules during mitosis. Further research has indicated that docetaxel induces programmed cell death (apoptosis) in cancer cells by binding to an apoptosis stopping protein called Bcl-2 (B-cell leukemia 2) and thus arresting its function.

Source: Drug Bank

Pharmacology

Docetaxel is a taxoid antineoplastic agent. It promotes the assembly of microtubules from tubulin dimers and stabilizes microtubules by preventing depolymerization. This stability results in the inhibition of the normal dynamic reorganization of the microtubule network that is essential for vital interphase and mitotic cellular functions. In addition, docetaxel induces abnormal arrays or "bundles" of microtubules throughout the cell cycle and multiple asters of microtubules during mitosis.

Source: Drug Bank

Absorption, Distribution, Metabolism, Elimination & Toxicity

Biotransformation

Hepatic. In vitro drug interaction studies revealed that docetaxel is metabolized by the CYP3A4 isoenzyme (1 major, 3 minor metabolites).

Source: Drug Bank

Protein Binding

About 94% protein bound, mainly to a1-acid glycoprotein, albumin, and lipoproteins.

Source: Drug Bank

Half-Life

Dose-dependent. Doses of 70 mg per square meter of body surface area (mg/m 2 ) or higher produce a triphasic elimination profile. With lower doses, assay limitations precluded detection of the terminal elimination phase. Alpha (distribution) 4 minutes. Beta 36 minutes. Gamma (terminal) 11.1 hours.

Source: Drug Bank

Toxicity

Oral LD 50 in rat is >2000 mg/kg. Anticipated complications of overdosage include: bone marrow suppression, peripheral neurotoxicity, and mucositis. In two reports of overdose, one patient received 150 mg/m 2 and the other received 200 mg/m 2 as 1-hour infusions. Both patients experienced severe neutropenia, mild asthenia, cutaneous reactions, and mild paresthesia, and recovered without incident.

Source: Drug Bank

Clearance

Route of Elimination

Docetaxel was eliminated in both the urine and feces following oxidative metabolism of the tert-butyl ester group, but fecal excretion was the main elimination route. Within 7 days, urinary and fecal excretion accounted for approximately 6% and 75% of the administered radioactivity, respectively.

Source: Drug Bank

Volume of Distribution

  • 113 L

Source: Drug Bank

Chemical Properties

Chemical Formula

C43H53NO14

Source: Drug Bank

Isomeric SMILES

CC1=C2[C@H](C(=O)[C@@]3([C@H](C[C@@H]4[C@]([C@H]3[C@@H]([C@@](C2(C)C)(C[C@@H]1OC(=O)[C@@H]([C@H](c5ccccc5)NC(=O)OC(C)(C)C)O)O)OC(=O)c6ccccc6)(CO4)OC(=O)C)O)C)O

Source: OpenEye

Canonical SMILES

CC(=O)O[C@@]12CO[C@@H]

Source: Drug Bank

Average Molecular Weight

807.8792

Source: Drug Bank

Monoisotopic Molecular Weight

807.346605409

Source: Drug Bank

SMILES

[H][C@@]12C[C@H](O)[C@@]3(C)C(=O)[C@H](O)C4=C(C)[C@H](C[C@@](O)([C@@H](OC(=O)C5=CC=CC=C5)[C@]3([H])[C@@]1(CO2)OC(C)=O)C4(C)C)OC(=O)[C@H](O)[C@@H](NC(=O)OC(C)(C)C)C1=CC=CC=C1

Source: Drug Bank

InChI String

InChI=1S/C43H53NO14/c1-22-26(55-37(51)32(48)30(24-15-11-9-12-16-24)44-38(52)58-39(3,4)5)20-43(53)35(56-36(50)25-17-13-10-14-18-25)33-41(8,34(49)31(47)29(22)40(43,6)7)27(46)19-28-42(33,21-54-28)57-23(2)45/h9-18,26-28,30-33,35,46-48,53H,19-21H2,1-8H3,(H,44,52)/t26-,27-,28+,30-,31+,32+,33-,35-,41+,42-,43+/m0/s1

Source: Drug Bank

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Taxane Pathway, Pharmacokinetics
    Representation of the genes involved in the metabolism and transport of paclitaxel and docetaxel, and the downstream effects of the drugs.

Genes that are associated with this drug in PharmGKB's database based on (1) variant annotations, (2) literature review, (3) pathways or (4) information automatically retrieved from DrugBank, depending on the "evidence" and "source" listed below.

Curated Information ?

Drug Targets

Gene Description
BCL2 (source: Drug Bank )
TUBB1 (source: Drug Bank )

Drug Interactions

Interaction Description
aprepitant - docetaxel Aprepitant may change levels of the chemotherapy agent, docetaxel. (source: Drug Bank )
docetaxel - aprepitant Aprepitant may change levels of the chemotherapy agent, docetaxel. (source: Drug Bank )
docetaxel - erythromycin The agent increases the serum levels and toxicity of docetaxel (source: Drug Bank )
docetaxel - erythromycin Erythromycin may increase the serum levels and toxicity of docetaxel. (source: Drug Bank )
docetaxel - josamycin Josamycin may increase the serum levels and toxicity of docetaxel. (source: Drug Bank )
docetaxel - ketoconazole The agent increases the serum levels and toxicity of docetaxel (source: Drug Bank )
docetaxel - ketoconazole Ketoconazole may increase the serum levels and toxicity of docetaxel. (source: Drug Bank )
docetaxel - midazolam The agent increases the serum levels and toxicity of docetaxel (source: Drug Bank )
docetaxel - midazolam Midazolam may increase the serum levels and toxicity of docetaxel. (source: Drug Bank )
docetaxel - orphenadrine The agent increases the serum levels and toxicity of docetaxel (source: Drug Bank )
docetaxel - orphenadrine Orphenadrine may increase the serum levels and toxicity of docetaxel. (source: Drug Bank )
docetaxel - quinupristin This combination presents an increased risk of toxicity. (source: Drug Bank )
docetaxel - testosterone The agent increases the serum levels and toxicity of docetaxel (source: Drug Bank )
docetaxel - testosterone Testosterone propionate may increase the serum levels and toxicity of docetaxel. (source: Drug Bank )
erythromycin - docetaxel The agent increases the serum levels and toxicity of docetaxel (source: Drug Bank )
erythromycin - docetaxel Erythromycin may increase the serum levels and toxicity of docetaxel. (source: Drug Bank )
ketoconazole - docetaxel The agent increases the serum levels and toxicity of docetaxel (source: Drug Bank )
ketoconazole - docetaxel Ketoconazole may increase the serum levels and toxicity of docetaxel. (source: Drug Bank )
midazolam - docetaxel The agent increases the serum levels and toxicity of docetaxel (source: Drug Bank )
midazolam - docetaxel Midazolam may increase the serum levels and toxicity of docetaxel. (source: Drug Bank )
orphenadrine - docetaxel The agent increases the serum levels and toxicity of docetaxel (source: Drug Bank )
orphenadrine - docetaxel Orphenadrine may increase the serum levels and toxicity of docetaxel. (source: Drug Bank )
quinupristin - docetaxel This combination presents an increased risk of toxicity (source: Drug Bank )
telithromycin - docetaxel Telithromycin may reduce clearance of Docetaxel. Consider alternate therapy or monitor for changes in the therapeutic/adverse effects of Docetaxel if Telithromycin is initiated, discontinued or dose changed. (source: Drug Bank )
testosterone - docetaxel The agent increases the serum levels and toxicity of docetaxel (source: Drug Bank )
testosterone - docetaxel Testosterone may increase the serum levels and toxicity of docetaxel. (source: Drug Bank )
trastuzumab - docetaxel Trastuzumab may increase the risk of neutropenia and anemia. Monitor closely for signs and symptoms of adverse events. (source: Drug Bank )
valrubicin - docetaxel The taxane derivative, Docetaxel, may increase Valrubicin toxicity. Consider alternate therapy or monitor for toxic effects. (source: Drug Bank )
voriconazole - docetaxel Voriconazole, a strong CYP3A4 inhibitor, may increase the serum concentration of docetaxel by decreasing its metabolism. Consider using a non-interacting antifungal or monitor for changes in the therapeutic and adverse effects of docetaxel if voriconazole is initiated, discontinued or dose changed. (source: Drug Bank )

Curated Information ?

Relationships from National Drug File - Reference Terminology (NDF-RT)

May Treat
Contraindicated With

Publications related to docetaxel: 97

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Pregnane X receptor, constitutive androstane receptor and hepatocyte nuclear factors as emerging players in cancer precision medicine. Pharmacogenomics. 2016. De Mattia Elena, et al. PubMed
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Pharmacogenetic Discovery in CALGB (Alliance) 90401 and Mechanistic Validation of a VAC14 Polymorphism That Increases Risk of Docetaxel-Induced Neuropathy. Clinical cancer research : an official journal of the American Association for Cancer Research. 2016. Hertz Daniel L, et al. PubMed
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SLCO1B1*5 polymorphism (rs4149056) is associated with chemotherapy-induced amenorrhea in premenopausal women with breast cancer: a prospective cohort study. BMC cancer. 2016. Reimer Toralf, et al. PubMed
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Genetic variants in VEGF pathway genes in neoadjuvant breast cancer patients receiving bevacizumab: Results from the randomized phase III GeparQuinto study. International journal of cancer. Journal international du cancer. 2015. Hein Alexander, et al. PubMed
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Polymorphism of CYP3A4 and ABCB1 genes increase the risk of neuropathy in breast cancer patients treated with paclitaxel and docetaxel. OncoTargets and therapy. 2016. Kus Tulay, et al. PubMed
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Carboplatin/taxane-induced gastrointestinal toxicity: a pharmacogenomics study on the SCOTROC1 trial. The pharmacogenomics journal. 2015. He Y J, et al. PubMed
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4beta-hydroxycholesterol as an endogenous CYP3A marker in cancer patients treated with taxanes. British journal of clinical pharmacology. 2015. de Graan Anne-Joy M, et al. PubMed
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Impact of pazopanib on docetaxel exposure: results of a phase I combination study with two different docetaxel schedules. Cancer chemotherapy and pharmacology. 2015. Hamberg P, et al. PubMed
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Identification of SNPs associated with response of breast cancer patients to neoadjuvant chemotherapy in the EORTC-10994 randomized phase III trial. The pharmacogenomics journal. 2015. Le Morvan V, et al. PubMed
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Docetaxel plus oral metronomic cyclophosphamide: a phase II study with pharmacodynamic and pharmacogenetic analyses in castration-resistant prostate cancer patients. Cancer. 2014. Derosa Lisa, et al. PubMed
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S4646 polymorphism in CYP19A1 gene is associated with the efficacy of hormone therapy in early breast cancer. International journal of clinical and experimental pathology. 2015. Shao Xiying, et al. PubMed
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The CYP19 RS4646 Polymorphism IS Related to the Prognosis of Stage I-II and Operable Stage III Breast Cancer. PloS one. 2015. Shao Xiying, et al. PubMed
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SNPs and taxane toxicity in breast cancer patients. Pharmacogenomics. 2014. Bosó Virginia, et al. PubMed
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Assessment of clinical outcomes in breast cancer patients treated with taxanes: multi-analytical approach. Gene. 2014. Tulsyan Sonam, et al. PubMed
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Role of solute carrier transporters in pancreatic cancer: a review. Pharmacogenomics. 2014. Lemstrová Radmila, et al. PubMed
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Clinical pharmacology of an atrasentan and docetaxel regimen in men with hormone-refractory prostate cancer. Cancer chemotherapy and pharmacology. 2014. Younis Islam R, et al. PubMed
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Genetic polymorphisms of SLC28A3, SLC29A1 and RRM1 predict clinical outcome in patients with metastatic breast cancer receiving gemcitabine plus paclitaxel chemotherapy. European journal of cancer (Oxford, England : 1990). 2014. Lee Soo-Youn, 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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Pharmacogenetic effects of regulatory nuclear receptors (PXR, CAR, RXRalpha and HNF4alpha) on docetaxel disposition in Chinese nasopharyngeal cancer patients. European journal of clinical pharmacology. 2013. Chew Sin-Chi, et al. PubMed
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Vascular endothelial growth factor polymorphisms and clinical outcome in patients with metastatic breast cancer treated with weekly docetaxel. The pharmacogenomics journal. 2013. Koutras A K, et al. PubMed
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Cumulative Genetic Risk Predicts Platinum/Taxane-Induced Neurotoxicity. Clinical cancer research : an official journal of the American Association for Cancer Research. 2013. McWhinney-Glass Sarah, et al. PubMed
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Correlation of aldo-ketoreductase (AKR) 1C3 genetic variant with doxorubicin pharmacodynamics in Asian breast cancer patients. British journal of clinical pharmacology. 2013. Voon Pei Jye, et al. PubMed
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A phase I/II pharmacokinetic and pharmacogenomic study of calcitriol in combination with cisplatin and docetaxel in advanced non-small-cell lung cancer. Cancer chemotherapy and pharmacology. 2013. Ramnath N, et al. PubMed
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DNA repair and cytotoxic drugs: the potential role of RAD51 in clinical outcome of non-small-cell lung cancer patients. Pharmacogenomics. 2013. Nogueira Augusto, et al. PubMed
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XRCC3 Thr241Met polymorphism and clinical outcomes of NSCLC patients receiving platinum-based chemotherapy: a systematic review and meta-analysis. PloS one. 2013. Shen Xiao-yong, et al. PubMed
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The relationship of polymorphisms in ABCC2 and SLCO1B3 with docetaxel pharmacokinetics and neutropenia: CALGB 60805 (Alliance). Pharmacogenetics and genomics. 2012. Lewis Lionel D, et al. PubMed
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Association of CASP7 polymorphisms and survival of patients with non-small cell lung cancer with platinum-based chemotherapy treatment. Chest. 2012. Qian Ji, et al. PubMed
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PharmGKB summary: very important pharmacogene information for GSTT1. Pharmacogenetics and genomics. 2012. Thorn Caroline F, et al. PubMed
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Glutathione S-transferase P1 c.313A > G polymorphism could be useful in the prediction of doxorubicin response in breast cancer patients. Annals of oncology : official journal of the European Society for Medical Oncology / ESMO. 2012. Romero A, et al. PubMed
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Pharmacogenetic assessment of clinical outcome in patients with metastatic breast cancer treated with docetaxel plus capecitabine. Journal of cancer research and clinical oncology. 2012. Dong Ningning, et al. PubMed
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PharmGKB summary: very important pharmacogene information for CYP3A5. Pharmacogenetics and genomics. 2012. Lamba Jatinder, et al. PubMed
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CYP2C8*3 predicts benefit/risk profile in breast cancer patients receiving neoadjuvant paclitaxel. Breast cancer research and treatment. 2012. Hertz Daniel L, et al. PubMed
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Erlotinib versus standard chemotherapy as first-line treatment for European patients with advanced EGFR mutation-positive non-small-cell lung cancer (EURTAC): a multicentre, open-label, randomised phase 3 trial. The lancet oncology. 2012. Rosell Rafael, et al. PubMed
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Genomic approach towards personalized anticancer drug therapy. Pharmacogenomics. 2012. Midorikawa Yutaka, et al. PubMed
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Association between DNA-repair polymorphisms and survival in pancreatic cancer patients treated with combination chemotherapy. Pharmacogenomics. 2011. Giovannetti Elisa, et al. PubMed
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Influence of SLCO1B3 Haplotype-tag SNPs on Docetaxel Disposition in Chinese Nasopharyngeal Cancer Patients. British journal of clinical pharmacology. 2011. Chew Sin-Chi, et al. PubMed
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Pharmacogenomic characterization of US FDA-approved cytotoxic drugs. Pharmacogenomics. 2011. Peters Eric J, et al. PubMed
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Erlotinib versus chemotherapy as first-line treatment for patients with advanced EGFR mutation-positive non-small-cell lung cancer (OPTIMAL, CTONG-0802): a multicentre, open-label, randomised, phase 3 study. The lancet oncology. 2011. Zhou Caicun, et al. PubMed
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Genetic variations in multiple drug action pathways and survival in advanced stage non-small cell lung cancer treated with chemotherapy. Clinical cancer research : an official journal of the American Association for Cancer Research. 2011. Li Yafei, et al. PubMed
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Influence of polymorphisms in MTHFR 677 C¿T, TYMS 3R¿2R and MTR 2756 A¿G on NSCLC risk and response to platinum-based chemotherapy in advanced NSCLC. Pharmacogenomics. 2011. Cui Lian-Hua, et al. PubMed
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Very important pharmacogene summary: ABCB1 (MDR1, P-glycoprotein). Pharmacogenetics and genomics. 2011. Hodges Laura M, et al. PubMed
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PXR-mediated induction of P-glycoprotein by anticancer drugs in a human colon adenocarcinoma-derived cell line. Cancer chemotherapy and pharmacology. 2010. Harmsen Stefan, et al. PubMed
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Blood-based CHRNA3 single nucleotide polymorphism and outcome in advanced non-small-cell lung cancer patients. Lung cancer (Amsterdam, Netherlands). 2010. Carcereny Enric, et al. PubMed
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A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform. The pharmacogenomics journal. 2010. Deeken J F, et al. PubMed
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Pharmacogenomics of membrane transporters: past, present and future. Pharmacogenomics. 2010. Yee Sook Wah, et al. PubMed
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Molecular predictors of outcome with gefitinib and docetaxel in previously treated non-small-cell lung cancer: data from the randomized phase III INTEREST trial. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2010. Douillard Jean-Yves, et al. PubMed
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Gefitinib versus cisplatin plus docetaxel in patients with non-small-cell lung cancer harbouring mutations of the epidermal growth factor receptor (WJTOG3405): an open label, randomised phase 3 trial. The lancet oncology. 2010. Mitsudomi Tetsuya, 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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Taxane Pathway. Pharmacogenetics and genomics. 2009. Oshiro Connie, et al. PubMed
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Post-treatment tumor gene expression signatures are more predictive of treatment outcomes than baseline signatures in breast cancer. Pharmacogenetics and genomics. 2009. Lee Soo-Chin, et al. PubMed
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Is there a place for drug combination strategies using clinical pharmacology attributes?--review of current trends in research. Current clinical pharmacology. 2009. Srinivas Nuggehally R. PubMed
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Association of CYP2A6 polymorphisms with S-1 plus docetaxel therapy outcomes in metastatic gastric cancer. Pharmacogenomics. 2009. Kong Sun-Young, et al. PubMed
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Genetic polymorphisms affecting clinical outcomes in epithelial ovarian cancer patients treated with taxanes and platinum compounds: a Korean population-based study. Gynecologic oncology. 2009. Kim Hee Seung, et al. PubMed
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Chromosomal instability determines taxane response. Proceedings of the National Academy of Sciences of the United States of America. 2009. Swanton Charles, et al. PubMed
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Pharmacogenetic pathway analysis of docetaxel elimination. Clinical pharmacology and therapeutics. 2009. Baker S D, et al. PubMed
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Resistance gene expression determines the in vitro chemosensitivity of non-small cell lung cancer (NSCLC). BMC cancer. 2009. Glaysher Sharon, et al. PubMed
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Cisplatin plus weekly CPT-11/docetaxel in advanced esophagogastric cancer: a phase I study with pharmacogenetic assessment of XPD, XRCC3 and UGT1A1 polymorphisms. Cancer chemotherapy and pharmacology. 2008. Font Albert, et al. PubMed
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RPN2 gene confers docetaxel resistance in breast cancer. Nature medicine. 2008. Honma Kimi, et al. PubMed
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Structure, function and regulation of P-glycoprotein and its clinical relevance in drug disposition. Xenobiotica; the fate of foreign compounds in biological systems. 2008. Zhou S-F. PubMed
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Xenobiotic transporters of the human organic anion transporting polypeptides (OATP) family. Xenobiotica; the fate of foreign compounds in biological systems. 2008. Hagenbuch B, et al. PubMed
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CYP450 pharmacogenetics for personalizing cancer therapy. Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapy. 2008. van Schaik Ron H N. PubMed
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Association of genetic polymorphisms in SLCO1B3 and ABCC2 with docetaxel-induced leukopenia. Cancer science. 2008. Kiyotani Kazuma, et al. PubMed
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Taxanes, microtubules and chemoresistant breast cancer. Biochimica et biophysica acta. 2008. McGrogan Barbara T, et al. PubMed
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Weekly paclitaxel in the adjuvant treatment of breast cancer. The New England journal of medicine. 2008. Sparano Joseph A, et al. PubMed
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Association of the CYP1B1*3 allele with survival in patients with prostate cancer receiving docetaxel. Molecular cancer therapeutics. 2008. Sissung Tristan M, et al. PubMed
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Pharmacogenetic assessment of toxicity and outcome after platinum plus taxane chemotherapy in ovarian cancer: the Scottish Randomised Trial in Ovarian Cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2007. Marsh Sharon, et al. PubMed
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Cisplatin and fluorouracil alone or with docetaxel in head and neck cancer. The New England journal of medicine. 2007. Posner Marshall R, et al. PubMed
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Cisplatin, fluorouracil, and docetaxel in unresectable head and neck cancer. The New England journal of medicine. 2007. Vermorken Jan B, et al. PubMed
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Pharmacogenetic analysis of paclitaxel transport and metabolism genes in breast cancer. The pharmacogenomics journal. 2007. Marsh S, et al. PubMed
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Taxol-resistance-associated gene-3 (TRAG-3/CSAG2) expression is predictive for clinical outcome in ovarian carcinoma patients. Virchows Archiv : an international journal of pathology. 2007. Materna Verena, et al. PubMed
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Genomic signatures to guide the use of chemotherapeutics. Nature medicine. 2006. Potti Anil, et al. PubMed
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Hoosier Oncology Group randomized phase II study of docetaxel, vinorelbine, and estramustine in combination in hormone-refractory prostate cancer with pharmacogenetic survival analysis. Clinical cancer research : an official journal of the American Association for Cancer Research. 2006. Hahn Noah M, et al. PubMed
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Multidrug resistance protein 2 is an important determinant of paclitaxel pharmacokinetics. Clinical cancer research : an official journal of the American Association for Cancer Research. 2006. Lagas Jurjen S, et al. PubMed
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MRP2 (ABCC2) transports taxanes and confers paclitaxel resistance and both processes are stimulated by probenecid. International journal of cancer. Journal international du cancer. 2005. Huisman Maarten T, et al. PubMed
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Targeting microtubules for cancer chemotherapy. Current medicinal chemistry. Anti-cancer agents. 2005. Zhou Jun, et al. PubMed
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Effect of cytochrome P450 3A4 inhibition on the pharmacokinetics of docetaxel. Clinical pharmacology and therapeutics. 2004. Engels Frederike K, et al. PubMed
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Microtubules as a target for anticancer drugs. Nature reviews. Cancer. 2004. Jordan Mary Ann, et al. PubMed
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Preclinical pharmacology of the taxanes: implications of the differences. The oncologist. 2004. Gligorov Joseph, et al. PubMed
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Taxane-based reversal agents modulate drug resistance mediated by P-glycoprotein, multidrug resistance protein, and breast cancer resistance protein. Molecular cancer therapeutics. 2003. Brooks Tracy A, et al. PubMed
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Histone deacetylase inhibitor LAQ824 down-regulates Her-2 and sensitizes human breast cancer cells to trastuzumab, taxotere, gemcitabine, and epothilone B. Molecular cancer therapeutics. 2003. Fuino Lianne, et al. PubMed
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Prediction of response to docetaxel by quantitative analysis of class I and III beta-tubulin isotype mRNA expression in human breast cancers. Clinical cancer research : an official journal of the American Association for Cancer Research. 2003. Hasegawa Seiichi, et al. PubMed
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Enhanced oral bioavailability of paclitaxel by coadministration of the P-glycoprotein inhibitor KR30031. Pharmaceutical research. 2003. Woo Jong Soo, et al. PubMed
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Transport of paclitaxel (Taxol) across the blood-brain barrier in vitro and in vivo. The Journal of clinical investigation. 2002. Fellner Stephan, et al. PubMed
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Explaining interindividual variability of docetaxel pharmacokinetics and pharmacodynamics in Asians through phenotyping and genotyping strategies. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2002. Goh Boon-Cher, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Decreased expression of BRCA2 mRNA predicts favorable response to docetaxel in breast cancer. International journal of cancer. Journal international du cancer. 2001. Egawa C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Extensive contribution of the multidrug transporters P-glycoprotein and Mrp1 to basal drug resistance. Cancer research. 2000. Allen J D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Docetaxel for patients with paclitaxel-resistant Müllerian carcinoma. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2000. Verschraegen C F, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Clinical pharmacokinetics of docetaxel. Clinical pharmacokinetics. 1999. Clarke S J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A phase II study of docetaxel in patients with paclitaxel-resistant metastatic breast cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 1998. Valero V, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Role of human cytochrome P450 3A4 and 3A5 in the metabolism of taxotere and its derivatives: enzyme specificity, interindividual distribution and metabolic contribution in human liver. Pharmacogenetics. 1998. Shou M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Induction of broad drug resistance in small cell lung cancer cells and its reversal by paclitaxel. International journal of cancer. Journal international du cancer. 1998. Su G M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Modification of paclitaxel metabolism in a cancer patient by induction of cytochrome P450 3A4. Drug metabolism and disposition: the biological fate of chemicals. 1998. Monsarrat B, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Bcl2 is the guardian of microtubule integrity. Cancer research. 1997. Haldar S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Variability in human cytochrome P450 paclitaxel metabolism. The Journal of pharmacology and experimental therapeutics. 1995. Sonnichsen D S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Inactivation of Bcl-2 by phosphorylation. Proceedings of the National Academy of Sciences of the United States of America. 1995. Haldar S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Nonlinear pharmacokinetics and metabolism of paclitaxel and its pharmacokinetic/pharmacodynamic relationships in humans. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 1995. Gianni L, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Taxanes: a new class of antitumor agents. Cancer investigation. 1995. Huizing M T, et al. PubMed

LinkOuts

Web Resource:
Wikipedia
National Drug Code Directory:
0075-8001-80
DrugBank:
DB01248
ChEBI:
4672
KEGG Compound:
C11231
PubChem Compound:
148124
PubChem Substance:
13410
46506766
Drugs Product Database (DPD):
2177080
ChemSpider:
130581
Therapeutic Targets Database:
DAP000590
FDA Drug Label at DailyMed:
82731db6-92fc-483b-9d73-9b2aed79b104

Clinical Trials

These are trials that mention docetaxel and are related to either pharmacogenetics or pharmacogenomics.

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NURSA Datasets

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No NURSA datasets available.

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Sources for PharmGKB drug information: DrugBank, PubChem.