Chemical: Drug
doxorubicin
1. Annotation of CPNDS Guideline for daunorubicin,doxorubicin and RARG,SLC28A3,UGT1A6
Summary
The Canadian Pharmacogenomics Network for Drug Safety (CPNDS) clinical recommendation group has published guidelines for the use of RARG , SLC28A3 , and UGT1A6 when prescribing anthracyclines for pediatric cancer patients. They recommend that pharmacogenomic testing of RARG rs2229774, SLC28A3 rs7853758, and UGT1A6 *4 (rs17863783) should be performed in all pediatric cancer patients who are treated with daunorubicin or doxorubicin because the association of those genetic variants with anthracycline associated cardiotoxicity (ACT).
Annotation
The Canadian Pharmacogenomics Network for Drug Safety (CPNDS) clinical recommendation group has published genotype-based drug dosing guidelines for anthracyclines in the British Journal of Clinical Pharmacology. Excerpts from "Recommendations for Genetic Testing to Reduce the Incidence of Anthracycline-induced Cardiotoxicity." [Article:27197003] follow:
All other patients should be considered at moderate genetic risk. Pharmacogenomic testing should be performed in all pediatric cancer patients who are treated with doxorubicin or daunorubicin for the following genetic variants RARG rs2229774, SLC28A3 rs7853758, UGT1A6*4 rs17863783. The rs2229774 A allele and the UGT1A6*4 s17863783 T allele are the high risk variants, whereas the rs7853758 A allele is a low-risk allele. For patients who carry the reduced risk allele without the high-risk alleles, classification into a lower cardiotoxicity risk should be considered ___(Level B - moderate recommendation)___.
Genetic testing is not recommended for adults and pediatric patients receiving alternate anthracyclines ___(Level C - optional recommendation)___.
Management options based on ACT risk
Low risk patients - normal follow up (Level A recommendation)
Moderate risk patients - increase frequency of monitoring (Level A recommendation)
High risk patients - the following management options should be considered:
- Increase frequency of monitoring with serial yearly echocardiographic monitoring an follow-up as recommended by COG guidelines (Level A recommendation)
- Aggressive screening and management of cardiovascular risk factors including obesity, diabetes, hypertension, coronary artery idea, lipid disorders and peripheral vascular disease (Level A recommendation)
- Prescribe dexrazoxane (Level B recommendation)
- Use liposomal encapsulated anthracycline preparations (Level C recommendation)
- Use of continuous inclusion or slower inclusion rates (Level C recommendation)
- Use of less cardiotoxic types of anthracyclines (Level C recommendation)
- Use of other cardioprotective agents (Level C recommendation)
- Prescribe alternative chemotherapy regiments for certain tumor types where alternative regiments have been shown to be equally effective (Level C recommendation)
See full guideline ([Article:27197003]) for further details and grading scheme.
1. Annotation of FDA Label for doxorubicin
Genes and/or phenotypes found in this label
-
Arrhythmias, Cardiac
- Contraindications section, Warnings section
- source: PHONT
-
Breast Neoplasms
- Indications & usage section, Warnings section, Adverse reactions section, Precautions section
- source: PHONT
-
Cardiomyopathies
- Warnings section
- source: PHONT
-
Heart Arrest
- Warnings section
- source: PHONT
-
Heart Failure
- Warnings section, Precautions section
- source: PHONT
-
Hodgkin Disease
- Indications & usage section
- source: PHONT
-
Leukemia
- Indications & usage section, Warnings section, Adverse reactions section, Precautions section
- source: PHONT
-
Leukemia, Myeloid
- Indications & usage section, Warnings section, Adverse reactions section, Precautions section
- source: PHONT
-
Leukemia, Myeloid, Acute
- Indications & usage section, Warnings section, Precautions section
- source: PHONT
-
Lymphoma, Non-Hodgkin
- Indications & usage section, Precautions section
- source: PHONT
-
Sarcoma
- Indications & usage section
- source: PHONT
-
Seizures
- Adverse reactions section, Precautions section
- source: PHONT
-
Tachycardia, Ventricular
- Warnings section
- source: PHONT
-
Thyroid Neoplasms
- Indications & usage 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.
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 doxorubicin
| Gene ? |
Variant?
(147) |
Alternate Names ? | Chemicals ? |
Alleles
?
(+ chr strand) |
Function ? |
Amino Acid?
Translation |
|
|---|---|---|---|---|---|---|---|
|
|
CYP2C8 | *1A | N/A | N/A | N/A | ||
|
|
CYP2C8 | *3 | N/A | N/A | N/A | ||
|
|
GSTM1 | non-null | N/A | N/A | N/A | ||
|
|
GSTM1 | null | N/A | N/A | N/A | ||
|
|
GSTT1 | non-null | N/A | N/A | N/A | ||
|
|
GSTT1 | null | N/A | N/A | N/A | ||
| rs10144771 | NC_000014.8:g.94778653A>G, NC_000014.9:g.94312316A>G, NG_011796.1:g.16036T>C, NM_001756.3:c.613+1720T>C, NT_187601.1:g.1426878A>G, rs60270135 |
A > G
|
SNP | ||||
| rs10276036 | NC_000007.13:g.87180198C>T, NC_000007.14:g.87550882C>T, NG_011513.1:g.167367G>A, NM_000927.4:c.1000-44G>A, rs10488634, rs111193439, rs17276942, rs57688958, rs58206924 |
C > A
C > T
|
SNP | ||||
| rs10426377 | NC_000019.10:g.48588977C>A, NC_000019.9:g.49092234C>A, NG_029063.1:g.41806C>A, NM_004605.2:c.378+1540C>A, NM_177973.1:c.423+1540C>A, XM_005259182.1:c.-228C>A, XM_005259182.2:c.-228C>A, rs61651031 |
C > A
|
SNP | ||||
| rs10426628 | NC_000019.10:g.48589173A>G, NC_000019.9:g.49092430A>G, NG_029063.1:g.42002A>G, NM_004605.2:c.378+1736A>G, NM_177973.1:c.423+1736A>G, XM_005259182.1:c.-32A>G, XM_005259182.2:c.-32A>G, rs57560171 |
A > G
|
SNP | ||||
| 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
|
|||
| rs10497346 | NC_000002.11:g.169771196T>C, NC_000002.12:g.168914686T>C, NW_003315909.1:g.101313T>C |
T > C
|
SNP | ||||
| rs1056892 | NC_000021.8:g.37518706G>A, NC_000021.9:g.36146408G>A, NM_001236.3:c.730G>A, NP_001227.1:p.Val244Met, NR_038892.1:n.93-53C>T, NR_038893.1:n.93-53C>T, NR_038894.1:n.93-53C>T, rs3171445, rs52816011, rs58776388 |
G > A
|
SNP |
V244M
|
|||
| rs10865801 | NC_000003.11:g.24929802C>A, NC_000003.12:g.24888311C>A, XR_245195.1:n.136+29559C>A, XR_245195.2:n.139+29559C>A, rs60718662 |
C > A
|
SNP | ||||
| rs11046217 | NC_000012.11:g.22017157G>C, NC_000012.12:g.21864223G>C, NG_012819.1:g.77472C>G, NM_005691.2:c.2237+216C>G, NM_005691.3:c.2237+216C>G, NM_020297.2:c.2237+216C>G, NM_020297.3:c.2237+216C>G, XM_005253284.1:c.2237+216C>G, XM_005253284.2:c.2237+216C>G, XM_005253285.1:c.2237+216C>G, XM_005253286.1:c.2237+216C>G, XM_005253286.2:c.2237+216C>G, XM_005253287.1:c.2237+216C>G, XM_005253287.3:c.2237+216C>G, XM_005253288.1:c.2237+216C>G, XM_005253288.2:c.2237+216C>G, XM_005253289.1:c.2199-1169C>G, XM_005253289.2:c.2199-1169C>G, XM_005253290.1:c.2199-3168C>G, XM_005253290.2:c.2199-3168C>G, XM_005253291.1:c.2237+216C>G, XM_006719025.2:c.2199-1169C>G, XM_011520545.1:c.2237+216C>G |
G > C
|
SNP | ||||
| 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
|
|||
| rs1138272 | NC_000011.10:g.67586108C>T, NC_000011.9:g.67353579C>T, NG_012075.1:g.7514C>T, NM_000852.3:c.341C>T, NP_000843.1:p.Ala114Val, XM_005273958.1:c.338C>T, XP_005274015.1:p.Ala113Val, rs11553894, rs17434783, rs1799811, rs1804665, rs3202011, rs4134657, rs52800258, rs61323549 |
C > T
|
SNP |
A114V
|
|||
| rs1143663 | NC_000021.8:g.37442675G>A, NC_000021.9:g.36070377G>A, NM_001286789.1:c.262G>A, NM_001757.3:c.262G>A, NP_001273718.1:p.Val88Ile, NP_001748.1:p.Val88Ile, NR_040084.1:n.486C>T, XM_005261073.1:c.262G>A, XP_005261130.1:p.Val88Ile, rs6413462 |
G > -
G > T
|
SNP |
V88I
|
|||
| rs1143684 | NC_000006.11:g.3010390C>T, NC_000006.12:g.3010156C>T, NG_034013.1:g.15341C>T, NM_000904.4:c.139C>T, NM_001290221.1:c.139C>T, NM_001290222.1:c.139C>T, NM_001318940.1:c.139C>T, NP_000895.2:p.Leu47Phe, NP_001277150.1:p.Leu47Phe, NP_001277151.1:p.Leu47Phe, NP_001305869.1:p.Leu47Phe, XM_005249147.1:c.139C>T, XM_005249148.1:c.139C>T, XM_005249148.2:c.139C>T, XM_005249149.1:c.139C>T, XM_005249149.2:c.139C>T, XM_005249150.1:c.139C>T, XM_005249150.2:c.139C>T, XM_005249151.1:c.139C>T, XM_005249151.3:c.139C>T, XM_005249152.1:c.139C>T, XM_006715100.1:c.139C>T, XM_011514642.1:c.139C>T, XM_011514643.1:c.139C>T, XM_011514644.1:c.139C>T, XM_011514645.1:c.139C>T, XM_011514646.1:c.139C>T, XP_005249204.1:p.Leu47Phe, XP_005249205.1:p.Leu47Phe, XP_005249206.1:p.Leu47Phe, XP_005249207.1:p.Leu47Phe, XP_005249208.1:p.Leu47Phe, XP_005249209.1:p.Leu47Phe, XP_006715163.1:p.Leu47Phe, XP_011512944.1:p.Leu47Phe, XP_011512945.1:p.Leu47Phe, XP_011512946.1:p.Leu47Phe, XP_011512947.1:p.Leu47Phe, XP_011512948.1:p.Leu47Phe, rs17856164, rs2756081, rs60515731 |
C > T
|
SNP |
L47F
|
|||
| rs1149222 | NC_000007.13:g.87073775G>T, NC_000007.14:g.87444459G>T, NG_007118.1:g.40974C>A, NM_000443.3:c.1119+403C>A, NM_018849.2:c.1119+403C>A, NM_018850.2:c.1119+403C>A, XM_011516308.1:c.1119+403C>A, XM_011516309.1:c.1119+403C>A, XM_011516310.1:c.1119+403C>A, XM_011516311.1:c.1119+403C>A, XM_011516312.1:c.1119+403C>A, XM_011516313.1:c.1119+403C>A, XM_011516314.1:c.1140+403C>A, XM_011516315.1:c.459+403C>A, XR_927478.1:n.1215+403C>A, rs10376488, rs1639242, rs17297653, rs60948017 |
G > T
|
SNP | ||||
| rs117532069 | NC_000020.10:g.53301068G>A, NC_000020.11:g.54684529G>A |
G > A
|
SNP | ||||
| rs11861115 | NC_000016.10:g.16105813G=, NC_000016.10:g.16105813G>A, NC_000016.9:g.16199670G>A, NG_028268.1:g.161237G=, NG_028268.1:g.161237G>A, NM_004996.3:c.2736-925A>G, NM_004996.3:c.2736-925G>A, NT_187607.1:g.1763672A=, NT_187607.1:g.1763672A>G, XM_005255326.1:c.2766-925G>A, XM_005255327.1:c.2610-925G>A, XM_005255328.1:c.2598-925G>A, XM_005255329.1:c.2559-925G>A, XM_011522497.1:c.2712-925A>G, XM_011522497.1:c.2712-925G>A, XM_011522498.1:c.2643-925A>G, XM_011522498.1:c.2643-925G>A |
G > A
|
SNP | ||||
| rs12059276 | NC_000001.10:g.110273541C>T, NC_000001.11:g.109730919C>T, rs60940964 |
C > T
|
SNP | ||||
| rs1214763 | NC_000006.11:g.43360261T>C, NC_000006.12:g.43392523T>C, XR_926814.1:n.400+789T>C, XR_926815.1:n.400+789T>C, rs1772678, rs2153700, rs60427804 |
T > C
|
SNP | ||||
| rs12210538 | NC_000006.11:g.110760008A>G, NC_000006.12:g.110438805A>G, NM_033125.3:c.1226T>C, NP_149116.2:p.Met409Thr, XM_005267183.1:c.1130T>C, XM_005267184.1:c.716T>C, XM_005267184.2:c.716T>C, XM_005267185.1:c.764T>C, XM_011536204.1:c.1097T>C, XM_011536205.1:c.1226T>C, XM_011536206.1:c.944T>C, XM_011536207.1:c.872T>C, XM_011536208.1:c.836T>C, XM_011536209.1:c.821T>C, XM_011536210.1:c.1184-2844T>C, XM_011536211.1:c.746T>C, XM_011536212.1:c.536T>C, XP_005267240.1:p.Met377Thr, XP_005267241.1:p.Met239Thr, XP_005267242.1:p.Met255Thr, XP_011534506.1:p.Met366Thr, XP_011534507.1:p.Met409Thr, XP_011534508.1:p.Met315Thr, XP_011534509.1:p.Met291Thr, XP_011534510.1:p.Met279Thr, XP_011534511.1:p.Met274Thr, XP_011534513.1:p.Met249Thr, XP_011534514.1:p.Met179Thr, rs17494155, rs386523325 |
A > G
|
SNP |
M409T
|
|||
| rs12658397 | NC_000005.10:g.102415949T>C, NC_000005.9:g.101751653T>C, NM_001289002.1:c.1473-2806A>G, NM_001289004.1:c.1287-2806A>G, NM_001308014.1:c.714-2806A>G, NM_173488.4:c.1473-2806A>G, XM_005271873.1:c.1473-2806A>G, XM_005271874.1:c.1473-2806A>G, XM_005271874.2:c.1473-2806A>G, XM_005271875.1:c.1287-2806A>G, XM_005271876.1:c.1287-2806A>G, XM_005271877.1:c.714-2806A>G, XM_011543147.1:c.1368-2806A>G, XM_011543148.1:c.1236-2806A>G, XM_011543149.1:c.900-2806A>G, XM_011543150.1:c.744-2806A>G, XM_011543151.1:c.714-2806A>G, XM_011543152.1:c.714-2806A>G, XM_011543153.1:c.651-2806A>G, rs61168560 |
T > C
|
SNP | ||||
| rs12721655 | NC_000019.10:g.41004377A>G, NC_000019.9:g.41510282A>G, NG_007929.1:g.18079A>G, NM_000767.4:c.415A>G, NP_000758.1:p.Lys139Glu, XM_005258569.1:c.415A>G, XM_005258569.3:c.415A>G, XM_005258570.1:c.415A>G, XM_005258571.1:c.295A>G, XM_006723050.2:c.415A>G, XM_011526546.1:c.415A>G, XM_011526547.1:c.415A>G, XM_011526548.1:c.415A>G, XM_011526549.1:c.-145A>G, XM_011526550.1:c.295A>G, XP_005258626.1:p.Lys139Glu, XP_005258627.1:p.Lys139Glu, XP_005258628.1:p.Lys99Glu, XP_006723113.1:p.Lys139Glu, XP_011524848.1:p.Lys139Glu, XP_011524849.1:p.Lys139Glu, XP_011524850.1:p.Lys139Glu, XP_011524852.1:p.Lys99Glu, rs56006122 |
A > G
|
SNP |
K139E
|
|||
| rs13058338 | NC_000022.10:g.37632770T>A, NC_000022.11:g.37236730T>A, NG_007288.1:g.12536A>T, NM_002872.3:c.108-3812A>T, NM_002872.4:c.108-3812A>T, XM_006724286.2:c.108-3812A>T, rs52805510 |
T > A
T > G
|
SNP | ||||
| 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
|
|||
| rs141059755 | NC_000008.10:g.66107605A>C, NC_000008.10:g.66107605A>G, NC_000008.11:g.65195370A>C, NC_000008.11:g.65195370A>G |
A > C
A > G
|
SNP | ||||
| rs1533682 | NC_000003.11:g.183634879T>C, NC_000003.12:g.183917091T>C, rs17552221, rs60788544 |
T > C
|
SNP | ||||
| rs168351 | NC_000009.11:g.75517311A>G, NC_000009.12:g.72902395A>G, NG_012249.1:g.55659T>C, NM_000689.4:c.1434-1115T>C, XM_005251800.1:c.1434-1115T>C, XM_005251801.1:c.1374-1115T>C, rs2183402, rs635555 |
A > G
|
SNP | ||||
| 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
|
|||
| rs16967126 | NC_000016.10:g.16034561T>C, NC_000016.9:g.16128418T>C, NG_028268.1:g.89985T>C, NM_004996.3:c.677+1391T>C, NT_187607.1:g.1692461T>C, XM_005255326.1:c.677+1391T>C, XM_005255327.1:c.551+1391T>C, XM_005255328.1:c.539+1391T>C, XM_005255329.1:c.677+1391T>C, XM_011522497.1:c.653+1391T>C, XM_011522498.1:c.731+1391T>C, rs60727008 |
T > C
|
SNP | ||||
| rs17021408 | NC_000001.10:g.213943238T>C, NC_000001.11:g.213769895T>C, XR_922586.1:n.137-24489T>C, XR_922587.1:n.136+38337T>C |
T > C
|
SNP | ||||
| rs17222723 | NC_000010.10:g.101595996T>A, NC_000010.11:g.99836239T>A, NG_011798.1:g.58534T>A, NM_000392.4:c.3563T>A, NP_000383.1:p.Val1188Glu, XM_005269536.1:c.3284T>A, XM_006717630.2:c.2867T>A, XP_005269593.1:p.Val1095Glu, XP_006717693.1:p.Val956Glu, XR_945604.1:n.3752T>A, XR_945605.1:n.3754T>A, rs52837755, rs59106280 |
T > A
|
SNP |
V1188E
|
|||
| rs1736557 | NC_000001.10:g.171080080G>A, NC_000001.11:g.171110939G>A, NG_012690.1:g.25063G>A, NM_001002294.2:c.769G>A, NM_001319173.1:c.709G>A, NM_001319174.1:c.580G>A, NM_006894.4:c.769G>A, NM_006894.5:c.769G>A, NP_001002294.1:p.Val257Met, NP_001306102.1:p.Val237Met, NP_001306103.1:p.Val194Met, NP_008825.4:p.Val257Met, XM_005245043.1:c.709G>A, XM_005245044.1:c.580G>A, XM_011509345.1:c.709G>A, XM_011509346.1:c.709G>A, XP_005245100.1:p.Val237Met, XP_005245101.1:p.Val194Met, XP_011507647.1:p.Val237Met, XP_011507648.1:p.Val237Met, rs17845981, rs17858963, rs56477964, rs58508781 |
G > A
|
SNP |
V257M
|
|||
| rs17583889 | NC_000002.11:g.138746039C>A, NC_000002.12:g.137988469C>A, NG_012966.1:g.29232C>A, NM_006895.2:c.191-12449C>A, XM_005263654.1:c.191-12449C>A, XM_011511063.1:c.89-12449C>A, XM_011511064.1:c.-188-12449C>A |
C > A
|
SNP | ||||
| rs17645700 | NC_000002.11:g.138780932T>C, NC_000002.12:g.138023362T>C, XR_244863.1:n.579-15566A>G |
T > C
|
SNP | ||||
| rs17863783 | NC_000002.11:g.234602277G>T, NC_000002.12:g.233693631G>T, NG_002601.2:g.108888G>T, NM_001072.3:c.627G>T, NM_019075.2:c.855+56254G>T, NM_019076.4:c.856-73403G>T, NM_019077.2:c.855+10839G>T, NM_021027.2:c.855+20842G>T, NM_205862.1:c.-7-168G>T, NP_001063.2:p.Val209=, XR_241240.1:n.788G>T, XR_241241.1:n.941+20842G>T, rs60686635 |
G > T
|
SNP |
V209V
|
|||
| 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
|
|||
| rs1799983 | NC_000007.13:g.150696111T>G, NC_000007.14:g.150999023T>G, NG_011992.1:g.12965T>G, NM_000603.4:c.894T>G, NM_001160109.1:c.894T>G, NM_001160110.1:c.894T>G, NM_001160111.1:c.894T>G, NP_000594.2:p.Asp298Glu, NP_001153581.1:p.Asp298Glu, NP_001153582.1:p.Asp298Glu, NP_001153583.1:p.Asp298Glu, XM_006716002.2:c.894T>G, XP_006716065.1:p.Asp298Glu, rs11266811, rs13238975, rs13305983, rs13308813, rs17173672, rs3730304, rs57135373 |
T > G
|
SNP |
D298E
|
|||
| rs1800566 | NC_000016.10:g.69711242G>A, NC_000016.9:g.69745145G>A, NG_011504.1:g.20389C>T, NM_000903.2:c.559C>T, NM_001025433.1:c.457C>T, NM_001025434.1:c.445C>T, NM_001286137.1:c.343C>T, NP_000894.1:p.Pro187Ser, NP_001020604.1:p.Pro153Ser, NP_001020605.1:p.Pro149Ser, NP_001273066.1:p.Pro115Ser, XM_005255830.1:c.343C>T, XP_005255887.1:p.Pro115Ser, rs4134727, rs4149351, rs57135274 |
G > A
|
SNP |
P187S
|
|||
| 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
|
|||
| rs1801274 | NC_000001.10:g.161479745A>G, NC_000001.11:g.161509955A>G, NG_012066.1:g.9541A>G, NM_001136219.1:c.500A>G, NM_021642.3:c.497A>G, NP_001129691.1:p.His167Arg, NP_067674.2:p.His166Arg, XM_005244960.1:c.500A>G, XM_011509287.1:c.500A>G, XM_011509288.1:c.497A>G, XM_011509289.1:c.500A>G, XM_011509290.1:c.500A>G, XM_011509291.1:c.500A>G, XP_005245017.1:p.His167Arg, XP_011507589.1:p.His167Arg, XP_011507590.1:p.His166Arg, XP_011507591.1:p.His167Arg, XP_011507592.1:p.His167Arg, XP_011507593.1:p.His167Arg, rs16830404, rs17851761, rs386545630, rs52796393, rs58440466 |
A > G
|
SNP |
H167R
|
|||
| 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
|
|||
| rs1883112 | NC_000022.10:g.37256846G>A, NC_000022.11:g.36860804G>A, NG_023400.1:g.4817G>A, NM_000631.4:c.-368G>A, NM_013416.3:c.-368G>A, NT_187631.1:g.81598G>A, XM_011530198.1:c.-1851G>A, XM_011530199.1:c.-915G>A, rs13055287, rs34673077, rs61381844 |
G > A
|
SNP | ||||
| rs1891059 | NC_000001.10:g.213946009G>A, NC_000001.11:g.213772666G>A, XR_922586.1:n.137-21718G>A, XR_922587.1:n.136+41108G>A |
G > A
|
SNP | ||||
| 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 | ||||
| rs2019604 | NC_000016.10:g.89549357T>G, NC_000016.9:g.89615765T>G, NG_008082.1:g.45961T>G, NM_003119.3:c.1664-1137T>G, XM_005256320.1:c.-21+2427T>G, XM_006721264.2:c.1664-1137T>G, rs17783931, rs3888234, rs57996679, rs74251519 |
T > G
|
SNP | ||||
| 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
A > T
|
SNP |
S893A
|
|||
| rs20572 | NC_000021.8:g.37444973C>T, NC_000021.9:g.36072675C>T, NM_001286789.1:c.*736C>T, NM_001757.3:c.627C>T, NP_001748.1:p.Ala209=, NR_040084.1:n.378-2190G>A, XM_005261073.1:c.*736C>T, rs17228570 |
C > T
|
SNP |
A209A
|
|||
| rs2070744 | NC_000007.13:g.150690079C=, NC_000007.13:g.150690079C>T, NC_000007.14:g.150992991C=, NC_000007.14:g.150992991C>T, NG_011992.1:g.6933C=, NG_011992.1:g.6933C>T, NM_000603.4:c.-51-762C=, NM_000603.4:c.-51-762C>T, NM_001160109.1:c.-813C=, NM_001160109.1:c.-813C>T, NM_001160110.1:c.-813C=, NM_001160110.1:c.-813C>T, NM_001160111.1:c.-813C=, NM_001160111.1:c.-813C>T, XM_006716002.2:c.-813C=, XM_006716002.2:c.-813C>T, rs10333298, rs34629525, rs61324345 |
C > T
|
SNP | ||||
| rs2108623 | NC_000019.10:g.15906196G>A, NC_000019.9:g.16017006G>A, rs17454858, rs3947944, rs4429395, rs59294251 |
G > A
|
SNP | ||||
| rs2180314 | NC_000006.11:g.52617731C>G, NC_000006.12:g.52752933C>G, NG_029430.1:g.15631G>C, NM_000846.4:c.335G>C, NP_000837.3:p.Ser112Thr, XM_011514532.1:c.335G>C, XP_011512834.1:p.Ser112Thr, rs17605670, rs17849682, rs3178048, rs52806894, rs57248371 |
C > G
|
SNP |
S112T
|
|||
| rs2229109 | NC_000007.13:g.87179809C>T, NC_000007.14:g.87550493C>T, NG_011513.1:g.167756G>A, NM_000927.4:c.1199G>A, NP_000918.2:p.Ser400Asn, rs17276921, rs2235031, rs386561706, rs59635509 |
C > T
|
SNP |
S400N
|
|||
| rs2233302 | NC_000005.10:g.151035537C>G, NC_000005.9:g.150415098C>G, NG_030590.1:g.57124G>C, NM_001252385.1:c.1521+45G>C, NM_001252386.1:c.1362+45G>C, NM_001252390.1:c.1521+45G>C, NM_001252391.1:c.1521+45G>C, NM_001252392.1:c.1521+45G>C, NM_001252393.1:c.1521+45G>C, NM_001258454.1:c.1521+45G>C, NM_001258455.1:c.1521+45G>C, NM_001258456.1:c.1521+45G>C, NM_006058.4:c.1521+45G>C, XM_005268355.1:c.1521+45G>C, XM_006714751.1:c.1521+45G>C, XM_006714752.1:c.1521+45G>C, XM_011537538.1:c.1521+45G>C |
C > A
C > G
|
SNP | ||||
| rs2235047 | NC_000007.13:g.87138532A>C, NC_000007.14:g.87509216A>C, NG_011513.1:g.209033T>G, NM_000927.4:c.3489+59T>G, rs386562025, rs56488245, rs57169649, rs58701659 |
A > C
|
SNP | ||||
| rs2236168 | NC_000002.11:g.31607128T>C, NC_000002.12:g.31384262T>C, NG_008871.1:g.35484A>G, NM_000379.3:c.794-415A>G, XM_011533095.1:c.794-415A>G, XM_011533096.1:c.794-415A>G, rs4325801, rs56579209, rs59694787 |
T > C
|
SNP | ||||
| rs2290271 | NC_000015.10:g.84904404A>C, NC_000015.9:g.85447635A>C, NM_001287761.1:c.603+166A>C, NM_001287762.1:c.603+166A>C, NM_004213.4:c.603+166A>C, XM_005254988.1:c.603+166A>C, XM_005254989.1:c.603+166A>C, XM_005254990.1:c.603+166A>C, XM_005254991.1:c.603+166A>C, XM_005254992.1:c.576+166A>C, XM_005254993.1:c.603+166A>C, XM_005254994.1:c.369+166A>C, XM_005254995.1:c.603+166A>C, XM_011522203.1:c.603+166A>C, XM_011522204.1:c.603+166A>C, XM_011522205.1:c.603+166A>C, XM_011522206.1:c.603+166A>C, XM_011522207.1:c.603+166A>C, XM_011522208.1:c.576+166A>C, XM_011522209.1:c.603+166A>C, XM_011522210.1:c.603+166A>C, XM_011522211.1:c.369+166A>C, XM_011522212.1:c.603+166A>C, XM_011522213.1:c.603+166A>C, XM_011522214.1:c.603+166A>C, XM_011522215.1:c.603+166A>C, XM_011522216.1:c.369+166A>C, XM_011522217.1:c.603+166A>C, XM_011522218.1:c.603+166A>C, XR_931944.1:n.809+166A>C, XR_931945.1:n.809+166A>C, rs17608700, rs56963765 |
A > C
|
SNP | ||||
| rs2294950 | NC_000001.10:g.60314496T>G, NC_000001.11:g.59848824T>G, NM_015888.4:c.1132-249T>G, XM_005270922.1:c.1132-249T>G, XM_006710676.1:c.1132-249T>G, XM_011541562.1:c.1006-249T>G, XM_011541563.1:c.1132-249T>G, XR_246271.1:n.1328-249T>G, XR_246272.1:n.1328-249T>G, XR_946665.1:n.1328-249T>G |
T > G
|
SNP | ||||
| rs2305364 | NC_000015.10:g.84909044T>C, NC_000015.9:g.85452275T>C, NM_001287761.1:c.795+249T>C, NM_001287762.1:c.795+249T>C, NM_004213.4:c.795+249T>C, XM_005254988.1:c.795+249T>C, XM_005254989.1:c.795+249T>C, XM_005254990.1:c.795+249T>C, XM_005254991.1:c.795+249T>C, XM_005254992.1:c.768+249T>C, XM_005254993.1:c.717+3392T>C, XM_005254994.1:c.561+249T>C, XM_005254995.1:c.795+249T>C, XM_011522203.1:c.795+249T>C, XM_011522204.1:c.795+249T>C, XM_011522205.1:c.795+249T>C, XM_011522206.1:c.795+249T>C, XM_011522207.1:c.795+249T>C, XM_011522208.1:c.768+249T>C, XM_011522209.1:c.717+3392T>C, XM_011522210.1:c.795+249T>C, XM_011522211.1:c.561+249T>C, XM_011522212.1:c.795+249T>C, XM_011522213.1:c.795+249T>C, XM_011522214.1:c.795+249T>C, XM_011522215.1:c.795+249T>C, XM_011522216.1:c.561+249T>C, XM_011522217.1:c.795+249T>C, XM_011522218.1:c.795+249T>C, XR_931944.1:n.1001+249T>C, XR_931945.1:n.1001+249T>C |
T > C
|
SNP | ||||
| rs2600834 | NC_000005.10:g.102269937T>C, NC_000005.9:g.101605641T>C, NM_180991.4:c.802+687A>G, XM_011543370.1:c.538+687A>G, XM_011543371.1:c.454+687A>G, XM_011543372.1:c.388+687A>G, rs10395200, rs58191158 |
T > C
|
SNP | ||||
| rs2720376 | NC_000004.11:g.185554300C>T, NC_000004.12:g.184633146C>T, NM_004346.3:c.179-750G>A, NM_032991.2:c.179-750G>A, XM_005263266.1:c.179-750G>A, XM_011532301.1:c.179-750G>A, rs17586243, rs58845854 |
C > T
|
SNP | ||||
| 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 | ||||
| rs2835285 | NC_000021.8:g.37507767G>A, NC_000021.9:g.36135469G>A, NM_001236.3:c.277G>A, NP_001227.1:p.Val93Ile, NR_038892.1:n.193-1708C>T, NR_038893.1:n.193-2395C>T, XM_005261074.1:c.277G>A, XM_011529772.1:c.277G>A, XP_005261131.1:p.Val93Ile, XP_011528074.1:p.Val93Ile |
G > A
|
SNP |
V93I
|
|||
| rs2889517 | NC_000016.10:g.16088099T>C, NC_000016.9:g.16181956T>C, NG_028268.1:g.143523T>C, NM_004996.3:c.2460+1108T>C, NT_187607.1:g.1745955T>C, XM_005255326.1:c.2460+1108T>C, XM_005255327.1:c.2334+1108T>C, XM_005255328.1:c.2322+1108T>C, XM_005255329.1:c.2283+1108T>C, XM_011522497.1:c.2436+1108T>C, XM_011522498.1:c.2367+1108T>C, rs58126671 |
T > C
|
SNP | ||||
| rs316019 | NC_000006.11:g.160670282A>C, NC_000006.12:g.160249250A>C, NM_003058.3:c.808T>G, NP_003049.2:p.Ser270Ala, rs1755917, rs17846267, rs17859289, rs386580336, rs52803175, rs60007366, rs666224 |
A > C
|
SNP |
S270A
|
|||
| rs3211371 | NC_000019.10:g.41016810C>T, NC_000019.9:g.41522715C>T, NG_007929.1:g.30512C>T, NM_000767.4:c.1459C>T, NP_000758.1:p.Arg487Cys, XM_005258569.1:c.*48C>T, XM_005258569.3:c.*48C>T, XM_005258570.1:c.*214C>T, XM_005258571.1:c.859C>T, XM_006723050.2:c.*143C>T, XM_011526547.1:c.*214C>T, XM_011526548.1:c.979C>T, XM_011526549.1:c.868C>T, XM_011526550.1:c.859C>T, XP_005258628.1:p.Arg287Cys, XP_011524850.1:p.Arg327Cys, XP_011524851.1:p.Arg290Cys, XP_011524852.1:p.Arg287Cys, rs12721654, rs28399500, rs33995163, rs58951873 |
C > T
|
SNP |
R487C
|
|||
| rs35596 | NC_000016.10:g.16059083T=, NC_000016.10:g.16059083T>C, NC_000016.9:g.16152940T>C, NG_028268.1:g.114507T=, NG_028268.1:g.114507T>C, NM_004996.3:c.1677+2788C>T, NM_004996.3:c.1677+2788T>C, NT_187607.1:g.1716974C=, NT_187607.1:g.1716974C>T, XM_005255326.1:c.1677+2788T>C, XM_005255327.1:c.1551+2788T>C, XM_005255328.1:c.1539+2788T>C, XM_005255329.1:c.1677+2788T>C, XM_011522497.1:c.1653+2788C>T, XM_011522497.1:c.1653+2788T>C, XM_011522498.1:c.1731+2788C>T, XM_011522498.1:c.1731+2788T>C, rs426546, rs559627, rs60012681 |
T > C
|
SNP | ||||
| rs3745274 | NC_000019.10:g.41006936G>T, NC_000019.9:g.41512841G>T, NG_007929.1:g.20638G>T, NM_000767.4:c.516G>T, NP_000758.1:p.Gln172His, XM_005258569.1:c.516G>T, XM_005258569.3:c.516G>T, XM_005258570.1:c.516G>T, XM_005258571.1:c.364+2490G>T, XM_006723050.2:c.516G>T, XM_011526546.1:c.516G>T, XM_011526547.1:c.516G>T, XM_011526548.1:c.484+2490G>T, XM_011526549.1:c.-75-1G>T, XM_011526550.1:c.364+2490G>T, XP_005258626.1:p.Gln172His, XP_005258627.1:p.Gln172His, XP_006723113.1:p.Gln172His, XP_011524848.1:p.Gln172His, XP_011524849.1:p.Gln172His, rs56308434, rs57685583 |
G > T
|
SNP |
Q172H
|
|||
| rs3764435 | NC_000009.11:g.75516876A>C, NC_000009.12:g.72901960A>C, NG_012249.1:g.56094T>G, NM_000689.4:c.1434-680T>G, XM_005251800.1:c.1434-680T>G, XM_005251801.1:c.1374-680T>G |
A > C
|
SNP | ||||
| rs3824662 | NC_000010.10:g.8104208C>A, NC_000010.11:g.8062245C>A, NG_015859.1:g.12542C>A, NM_001002295.1:c.779-1748C>A, NM_002051.2:c.779-1751C>A, XM_005252442.1:c.779-1748C>A, XM_005252442.2:c.779-1748C>A, XM_005252443.1:c.779-1748C>A, XM_005252443.3:c.779-1748C>A, rs11567915 |
C > A
|
SNP | ||||
| rs3887137 | NC_000009.11:g.107698612C>T, NC_000009.12:g.104936331C>T, XR_930204.1:n.952-2421C>T, rs57670930 |
C > T
|
SNP | ||||
| rs3957357 | NC_000006.11:g.52668687A>G, NC_000006.12:g.52803889A>G, NM_001319059.1:c.-281T>C, NM_145740.4:c.-135T>C, XM_005249034.1:c.-135T>C, XM_005249034.2:c.-135T>C, rs58145964 |
A > G
|
SNP | ||||
| rs396991 | NC_000001.10:g.161514542A>C, NC_000001.11:g.161544752A>C, NG_009066.1:g.10872T>G, NM_000569.6:c.634T>G, NM_001127592.1:c.631T>G, NM_001127593.1:c.526T>G, NM_001127595.1:c.526T>G, NM_001127596.1:c.523T>G, NP_000560.5:p.Phe212Val, NP_001121064.1:p.Phe211Val, NP_001121065.1:p.Phe176Val, NP_001121067.1:p.Phe176Val, NP_001121068.1:p.Phe175Val, XM_011509293.1:c.428-1553T>G, rs17857127, rs2229097, rs3171040, rs4151086, rs61228128 |
A > C
A > G
|
SNP |
F212V
|
|||
| rs4148350 | NC_000016.10:g.16076620G>T, NC_000016.9:g.16170477G>T, NG_028268.1:g.132044G>T, NM_004996.3:c.1988+219G>T, NT_187607.1:g.1734472G>T, XM_005255326.1:c.1988+219G>T, XM_005255327.1:c.1862+219G>T, XM_005255328.1:c.1850+219G>T, XM_005255329.1:c.1988+219G>T, XM_011522497.1:c.1964+219G>T, XM_011522498.1:c.1895+219G>T, rs587779726, rs60127316 |
G > T
|
SNP | ||||
| rs4148354 | NC_000016.10:g.16080649G>A, NC_000016.9:g.16174506G>A, NG_028268.1:g.136073G>A, NM_004996.3:c.2115+1171G>A, NT_187607.1:g.1738501G>A, XM_005255326.1:c.2115+1171G>A, XM_005255327.1:c.1989+1171G>A, XM_005255328.1:c.1977+1171G>A, XM_005255329.1:c.2115+1171G>A, XM_011522497.1:c.2091+1171G>A, XM_011522498.1:c.2022+1171G>A, rs58159089 |
G > A
|
SNP | ||||
| rs4148416 | NC_000017.10:g.48753423C>T, NC_000017.11:g.50676062C>T, NM_003786.3:c.3039C>T, NP_003777.2:p.Gly1013=, XM_005257763.1:c.2847C>T, XM_005257763.2:c.2847C>T, XM_011525422.1:c.2952C>T, XM_011525423.1:c.3144C>T, XM_011525424.1:c.2364C>T, XM_011525425.1:c.2313C>T, XP_005257820.1:p.Gly949=, XP_011523724.1:p.Gly984=, XP_011523725.1:p.Gly1048=, XP_011523726.1:p.Gly788=, XP_011523727.1:p.Gly771=, XR_934586.1:n.3237C>T |
C > T
|
SNP |
G1013G
|
|||
| rs4148737 | NC_000007.13:g.87171152T>C, NC_000007.14:g.87541836T>C, NG_011513.1:g.176413A>G, NM_000927.4:c.2212-372A>G, rs386591482, rs60838665 |
T > C
|
SNP | ||||
| rs4148808 | NC_000007.13:g.87105795T>C, NC_000007.14:g.87476479T>C, NG_007118.1:g.8954A>G, NM_000443.3:c.-852A>G, NM_018849.2:c.-852A>G, NM_018850.2:c.-852A>G, XM_011516308.1:c.-715A>G, XM_011516309.1:c.-715A>G, XM_011516310.1:c.-715A>G, XM_011516311.1:c.-715A>G, XM_011516312.1:c.-715A>G, XM_011516313.1:c.-715A>G, XM_011516314.1:c.-332A>G, XR_927478.1:n.-619A>G, rs386591494, rs59666582 |
T > C
|
SNP | ||||
| 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
|
|||
| rs4149178 | NC_000006.11:g.43272188A>G, NC_000006.12:g.43304450A>G, NM_006672.3:c.1586+206A>G, NM_153320.2:c.1592+206A>G, XM_005248823.1:c.1199+206A>G, XM_006714970.2:c.1601+206A>G, XM_006714971.2:c.1595+206A>G, XM_011514256.1:c.1778+206A>G, XM_011514257.1:c.1769+206A>G, XM_011514258.1:c.1676+206A>G, XM_011514260.1:c.1544+206A>G, XM_011514261.1:c.1208+206A>G, XM_011514263.1:c.1004+206A>G, XM_011514607.1:c.495+1769T>C, XM_011514608.1:c.495+1769T>C |
A > G
|
SNP | ||||
| rs41557318 | NC_000021.8:g.37443349C>T, NC_000021.9:g.36071051C>T, NM_001286789.1:c.391C>T, NM_001757.3:c.391C>T, NP_001273718.1:p.Pro131Ser, NP_001748.1:p.Pro131Ser, NR_040084.1:n.378-566G>A, XM_005261073.1:c.391C>T, XP_005261130.1:p.Pro131Ser |
C > T
|
SNP |
P131S
|
|||
| rs4244285 | NC_000010.10:g.96541616G>A, NC_000010.11:g.94781859G>A, NG_008384.2:g.24154G>A, NM_000769.1:c.681G>A, NM_000769.2:c.681G>A, NP_000760.1:p.Pro227=, rs116940633, rs17879456, rs60361278 |
G > A
|
SNP |
P227P
|
|||
| rs42524 | NC_000007.13:g.94043239C>G, NC_000007.14:g.94413927C>G, NG_007405.1:g.24367C>G, NM_000089.3:c.1645C>G, NP_000080.2:p.Pro549Ala, rs10383941, rs1136007, rs17857444, rs59646360 |
C > G
|
SNP |
P549A
|
|||
| rs4261716 | NC_000002.11:g.234593117G>T, NC_000002.12:g.233684471G>T, NG_002601.2:g.99728G>T, NM_019075.2:c.855+47094G>T, NM_019076.4:c.855+65909G>T, NM_019077.2:c.855+1679G>T, NM_021027.2:c.855+11682G>T, XM_005246081.1:c.855+1679G>T, XR_241241.1:n.941+11682G>T, rs17683792, rs58252906 |
G > T
|
SNP | ||||
| rs4407290 | NC_000002.11:g.31606670G>A, NC_000002.12:g.31383804G>A, NG_008871.1:g.35942C>T, NM_000379.3:c.837C>T, NP_000370.2:p.Val279=, XM_011533095.1:c.837C>T, XM_011533096.1:c.837C>T, XP_011531397.1:p.Val279=, XP_011531398.1:p.Val279=, rs17544440, rs57766493 |
G > A
|
SNP |
V279V
|
|||
| 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], rs34743033 (retired) |
(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2
(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)4
(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)7
(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)8
(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)9
|
microsatellite | ||||
| rs45511401 | NC_000016.10:g.16079375G>T, NC_000016.9:g.16173232G>T, NG_028268.1:g.134799G>T, NM_004996.3:c.2012G>T, NP_004987.2:p.Gly671Val, NT_187607.1:g.1737227G>T, XM_005255326.1:c.2012G>T, XM_005255327.1:c.1886G>T, XM_005255328.1:c.1874G>T, XM_005255329.1:c.2012G>T, XM_011522497.1:c.1988G>T, XM_011522498.1:c.1919G>T, XP_005255383.1:p.Gly671Val, XP_005255384.1:p.Gly629Val, XP_005255385.1:p.Gly625Val, XP_005255386.1:p.Gly671Val, XP_011520799.1:p.Gly663Val, XP_011520800.1:p.Gly640Val, rs61731703 |
G > T
|
SNP |
G671V
|
|||
| rs4638843 | NC_000002.11:g.47704027G>C, NC_000002.12:g.47476888G>C, NG_007110.2:g.78765G>C, NM_000251.2:c.2210+317G>C, NM_001258281.1:c.2012+317G>C, XM_005264332.1:c.2210+317G>C, XM_005264332.2:c.2210+317G>C, XM_005264333.1:c.2060+317G>C, XM_011532867.1:c.2210+317G>C, XR_939685.1:n.2282+317G>C, rs17224885, rs5023612, rs61203271 |
G > C
|
SNP | ||||
| 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 | ||||
| rs4646437 | NC_000007.13:g.99365083G>A, NC_000007.14:g.99767460G>A, NG_008421.1:g.21726C>T, NM_001202855.2:c.671-205C>T, NM_017460.5:c.671-202C>T, XM_011515841.1:c.671-202C>T, XM_011515842.1:c.671-205C>T, rs386594232, rs57997883 |
G > A
|
SNP | ||||
| rs4673 | NC_000016.10:g.88646828A>G, NC_000016.9:g.88713236A>G, NG_007291.1:g.9222T>C, NM_000101.2:c.214T>C, NM_000101.3:c.214T>C, NP_000092.2:p.Tyr72His, XM_011522905.1:c.214T>C, XP_011521207.1:p.Tyr72His, rs11266997, rs1130413, rs2228471, rs2242272, rs3189211, rs386594564, rs4782392, rs59455247 |
A > G
|
SNP |
Y72H
|
|||
| rs4877847 | NC_000009.11:g.86946417A>C, NC_000009.12:g.84331502A>C, NM_001199633.1:c.60+9072T>G, NM_022127.2:c.60+9072T>G, NR_037638.2:n.206+9072T>G, XM_011518905.1:c.60+9072T>G, XM_011518906.1:c.60+9072T>G, XM_011518907.1:c.-97-18048T>G, XM_011518909.1:c.60+9072T>G, XM_011518910.1:c.60+9072T>G, XR_929832.1:n.187+9072T>G |
A > C
|
SNP | ||||
| rs4982753 | NC_000014.8:g.23814569C>T, NC_000014.9:g.23345360C>T, rs61203156 |
C > T
|
SNP | ||||
| rs4987121 | NC_000021.8:g.37518679A>T, NC_000021.9:g.36146381A>T, NM_001236.3:c.703A>T, NP_001227.1:p.Met235Leu, NR_038892.1:n.93-26T>A, NR_038893.1:n.93-26T>A, NR_038894.1:n.93-26T>A, rs52833559 |
A > T
|
SNP |
M235L
|
|||
| rs63319 | NC_000009.11:g.75524784G>T, NC_000009.12:g.72909868G>T, NG_012249.1:g.48186C>A, NM_000689.4:c.1201-109C>A, XM_005251800.1:c.1201-109C>A, XM_005251801.1:c.1141-109C>A, rs386602334, rs604561, rs726191 |
G > T
|
SNP | ||||
| rs6759892 | NC_000002.11:g.234601669T>G, NC_000002.12:g.233693023T>G, NG_002601.2:g.108280T>G, NM_001072.3:c.19T>G, NM_019075.2:c.855+55646T>G, NM_019076.4:c.856-74011T>G, NM_019077.2:c.855+10231T>G, NM_021027.2:c.855+20234T>G, NM_205862.1:c.-7-776T>G, NP_001063.2:p.Ser7Ala, XR_241240.1:n.180T>G, XR_241241.1:n.941+20234T>G, rs17670302, rs60624335 |
T > G
|
SNP |
S7A
|
|||
| rs6907567 | NC_000006.11:g.110777962A>G, NC_000006.12:g.110456759A>G, NM_033125.3:c.312T>C, NP_149116.2:p.Asn104=, XM_005267183.1:c.216T>C, XM_005267184.1:c.23+141T>C, XM_005267184.2:c.23+141T>C, XM_005267185.1:c.-151T>C, XM_011536204.1:c.183T>C, XM_011536205.1:c.312T>C, XM_011536206.1:c.171+141T>C, XM_011536207.1:c.179+141T>C, XM_011536208.1:c.143+141T>C, XM_011536209.1:c.128+141T>C, XM_011536210.1:c.312T>C, XM_011536211.1:c.171+141T>C, XM_011536212.1:c.-261T>C, XP_005267240.1:p.Asn72=, XP_011534506.1:p.Asn61=, XP_011534507.1:p.Asn104=, XP_011534512.1:p.Asn104= |
A > G
|
SNP |
N104N
|
|||
| rs714368 | NC_000006.11:g.110778128T>C, NC_000006.12:g.110456925T>C, NM_033125.3:c.146A>G, NP_149116.2:p.His49Arg, XM_005267183.1:c.146A>G, XM_005267184.1:c.-3A>G, XM_005267184.2:c.-3A>G, XM_005267185.1:c.-317A>G, XM_011536204.1:c.17A>G, XM_011536205.1:c.146A>G, XM_011536206.1:c.146A>G, XM_011536207.1:c.154A>G, XM_011536208.1:c.118A>G, XM_011536209.1:c.103A>G, XM_011536210.1:c.146A>G, XM_011536211.1:c.146A>G, XM_011536212.1:c.-427A>G, XP_005267240.1:p.His49Arg, XP_011534506.1:p.His6Arg, XP_011534507.1:p.His49Arg, XP_011534508.1:p.His49Arg, XP_011534509.1:p.Ile52Val, XP_011534510.1:p.Ile40Val, XP_011534511.1:p.Ile35Val, XP_011534512.1:p.His49Arg, XP_011534513.1:p.His49Arg, rs117158242, rs52825948, rs60832844 |
T > C
|
SNP |
H49R
|
|||
| rs723685 | NC_000006.11:g.110763875A>G, NC_000006.12:g.110442672A>G, NM_033125.3:c.755T>C, NP_149116.2:p.Val252Ala, XM_005267183.1:c.659T>C, XM_005267184.1:c.245T>C, XM_005267184.2:c.245T>C, XM_005267185.1:c.293T>C, XM_011536204.1:c.626T>C, XM_011536205.1:c.755T>C, XM_011536206.1:c.473T>C, XM_011536207.1:c.401T>C, XM_011536208.1:c.365T>C, XM_011536209.1:c.350T>C, XM_011536210.1:c.755T>C, XM_011536211.1:c.275T>C, XM_011536212.1:c.65T>C, XP_005267240.1:p.Val220Ala, XP_005267241.1:p.Val82Ala, XP_005267242.1:p.Val98Ala, XP_011534506.1:p.Val209Ala, XP_011534507.1:p.Val252Ala, XP_011534508.1:p.Val158Ala, XP_011534509.1:p.Val134Ala, XP_011534510.1:p.Val122Ala, XP_011534511.1:p.Val117Ala, XP_011534512.1:p.Val252Ala, XP_011534513.1:p.Val92Ala, XP_011534514.1:p.Val22Ala, rs52815010, rs59277963 |
A > G
|
SNP |
V252A
|
|||
| rs729147 | NC_000004.11:g.100333267G>A, NC_000004.12:g.99412110G>A, NM_000673.4:c.*1038C>T, NM_001166504.1:c.*1038C>T, rs3805327, rs56638370, rs59352744 |
G > A
|
SNP | ||||
| rs7319981 | NC_000013.10:g.103723722G>A, NC_000013.11:g.103071372G>A, NG_016648.1:g.475C>T, rs56422021 |
G > A
|
SNP | ||||
| rs763110 | NC_000001.10:g.172627498C=, NC_000001.10:g.172627498C>T, NC_000001.11:g.172658358C=, NC_000001.11:g.172658358C>T, NG_007269.1:g.4314C=, NG_007269.1:g.4314C>T, NM_000639.2:c.-157-687C>T, NM_000639.2:c.-844C=, NM_001302746.1:c.-844C=, NM_001302746.1:c.-844C>T, rs59042607 |
C > T
|
SNP | ||||
| rs7754103 | NC_000006.11:g.160061090C>T, NC_000006.12:g.159640058C>T, rs57022833 |
C > T
|
SNP | ||||
| rs7853758 | NC_000009.11:g.86900926G>A, NC_000009.12:g.84286011G>A, NM_001199633.1:c.1381C>T, NM_022127.2:c.1381C>T, NP_001186562.1:p.Leu461=, NP_071410.1:p.Leu461=, NR_037638.2:n.1703C>T, XM_011518905.1:c.1465C>T, XM_011518906.1:c.1465C>T, XM_011518907.1:c.1132C>T, XM_011518908.1:c.742C>T, XP_011517207.1:p.Leu489=, XP_011517208.1:p.Leu489=, XP_011517209.1:p.Leu378=, XP_011517210.1:p.Leu248=, XR_929832.1:n.1572C>T, XR_930033.1:n.88-3031G>A, rs59483082, rs59559753 |
G > A
|
SNP |
L461L
|
|||
| rs79085477 | NC_000020.10:g.55701215C>T, NC_000020.11:g.57126159C>T, XR_936901.1:n.278+5836G>A, XR_936902.1:n.89+350G>A, XR_936903.1:n.48+399G>A, XR_936904.1:n.278+5836G>A |
C > T
|
SNP | ||||
| rs8001466 | NC_000013.10:g.99355601G>C, NC_000013.11:g.98703347G>C, NG_017032.1:g.54329C>G, NM_005073.3:c.1417-818C>G |
G > C
|
SNP | ||||
| rs80223967 | NC_000001.10:g.213943679A>G, NC_000001.11:g.213770336A>G, XR_922586.1:n.137-24048A>G, XR_922587.1:n.136+38778A>G |
A > G
|
SNP | ||||
| rs8133052 | NC_000021.8:g.37507501G>A, NC_000021.9:g.36135203G>A, NM_001236.3:c.11G>A, NP_001227.1:p.Cys4Tyr, NR_038892.1:n.193-1442C>T, NR_038893.1:n.193-2129C>T, XM_005261074.1:c.11G>A, XM_011529772.1:c.11G>A, XP_005261131.1:p.Cys4Tyr, XP_011528074.1:p.Cys4Tyr, rs17283714, rs57678090 |
G > A
|
SNP |
C4Y
|
|||
| rs8187710 | NC_000010.10:g.101611294G>A, NC_000010.11:g.99851537G>A, NG_011798.1:g.73832G>A, NM_000392.4:c.4544G>A, NP_000383.1:p.Cys1515Tyr, XM_005269536.1:c.4265G>A, XM_006717630.2:c.3848G>A, XP_005269593.1:p.Cys1422Tyr, XP_006717693.1:p.Cys1283Tyr, XR_945605.1:n.4608G>A, rs17222568, rs52804507, rs58135906 |
G > A
|
SNP |
C1515Y
|
|||
| rs8187996 | NC_000009.11:g.75516495C>T, NC_000009.12:g.72901579C>T, NG_012249.1:g.56475G>A, NM_000689.4:c.1434-299G>A, XM_005251800.1:c.1434-299G>A, XM_005251801.1:c.1374-299G>A, rs17647529 |
C > T
|
SNP | ||||
| rs8192709 | NC_000019.10:g.40991369C>T, NC_000019.9:g.41497274C>T, NG_007929.1:g.5071C>T, NM_000767.4:c.64C>T, NP_000758.1:p.Arg22Cys, XM_005258569.1:c.64C>T, XM_005258569.3:c.64C>T, XM_005258570.1:c.64C>T, XM_006723050.2:c.64C>T, XM_011526546.1:c.64C>T, XM_011526547.1:c.64C>T, XM_011526548.1:c.64C>T, XP_005258626.1:p.Arg22Cys, XP_005258627.1:p.Arg22Cys, XP_006723113.1:p.Arg22Cys, XP_011524848.1:p.Arg22Cys, XP_011524849.1:p.Arg22Cys, XP_011524850.1:p.Arg22Cys |
C > T
|
SNP |
R22C
|
|||
| rs885004 | NC_000009.11:g.86909550G>A, NC_000009.12:g.84294635G>A, NM_001199633.1:c.862-360C>T, NM_022127.2:c.862-360C>T, NR_037638.2:n.1184-360C>T, XM_011518905.1:c.946-360C>T, XM_011518906.1:c.946-360C>T, XM_011518907.1:c.613-360C>T, XM_011518908.1:c.223-360C>T, XM_011518909.1:c.946-360C>T, XM_011518910.1:c.946-360C>T, XR_929832.1:n.1073-360C>T, rs59238422 |
G > A
|
SNP | ||||
| rs9024 | NC_000021.8:g.37445313G>A, NC_000021.9:g.36073015G>A, NM_001286789.1:c.*1076G>A, NM_001757.3:c.*133G>A, NR_040084.1:n.377+1866C>T, XM_005261073.1:c.*1076G>A, rs17228577, rs3171443, rs61389789 |
G > A
|
SNP | ||||
| rs903880 | NC_000016.10:g.16036657C>A, NC_000016.9:g.16130514C>A, NG_028268.1:g.92081C>A, NM_004996.3:c.809+54C>A, NT_187607.1:g.1694556C>A, XM_005255326.1:c.809+54C>A, XM_005255327.1:c.683+54C>A, XM_005255328.1:c.671+54C>A, XM_005255329.1:c.809+54C>A, XM_011522497.1:c.785+54C>A, XM_011522498.1:c.863+54C>A, rs58300570 |
C > A
|
SNP | ||||
| rs939338 | NC_000003.11:g.183704068G>A, NC_000003.12:g.183986280G>A, NM_001023587.2:c.592-902C>T, NM_001320032.1:c.-941+1490C>T, NM_005688.3:c.591+1490C>T, NR_135125.1:n.778-825C>T, XM_005247058.1:c.591+1490C>T, XM_005247058.3:c.591+1490C>T, XM_005247059.1:c.591+1490C>T, XM_005247059.3:c.591+1490C>T, XM_005247060.1:c.591+1490C>T, XM_005247061.1:c.591+1490C>T, XM_005247062.1:c.-941+1490C>T, XM_011512314.1:c.591+1490C>T, XM_011512315.1:c.591+1490C>T, XM_011512316.1:c.-941+1490C>T, rs17218204, rs3749439, rs56440939, rs59349069 |
G > A
|
SNP | ||||
| rs9514091 | NC_000013.10:g.103714254G>A, NC_000013.11:g.103061904G>A, NG_016648.1:g.9943C>T, NM_000452.2:c.378-3522C>T, rs57163569 |
G > A
|
SNP | ||||
| rs9561778 | NC_000013.10:g.95713715G>T, NC_000013.11:g.95061461G>T, NM_001301829.1:c.3225+1243C>A, NM_005845.4:c.3366+1243C>A, XM_005254025.1:c.3237+1243C>A, XM_005254025.2:c.3237+1243C>A, XM_005254026.1:c.3225+1243C>A, XM_005254027.1:c.3141+1243C>A, XM_006719914.1:c.3276+1243C>A, XM_011521047.1:c.2817+1243C>A, rs17234943 |
G > A
G > T
|
SNP | ||||
| rs9679162 | NC_000002.11:g.31247514G>T, NC_000002.12:g.31024648G>T, NM_001253826.1:c.315-58346C>A, NM_001253827.1:c.70-31641C>A, NM_024572.3:c.130-31641C>A, NR_045602.1:n.903-31641C>A, XM_005264559.1:c.25-31641C>A, XM_011533104.1:c.448-31641C>A, XM_011533105.1:c.70-31641C>A, XM_011533106.1:c.43-31641C>A, rs56573917, rs57478659, rs60984987 |
G > T
|
SNP |
Overview
- Doxorubicin HCl
- Doxorubicin Hydrochloride
- Doxorubicina [INN-Spanish]
- Doxorubicine [INN-French]
- Doxorubicinum [INN-Latin]
- doxorubicin
- ADM
- Adriablastin
- Adriamycin
- Adriamycin PFS
- Adriamycin RDF
- Adriamycin Semiquinone
- Adriblastin
- Adriblastina
- Caelyx
- DM2
- Doxil
- Doxo
- Myocet
- RDF Rubex
- Resmycin
- Rubex
PharmGKB Accession Id
PA449412
Type(s):
Drug
Metabolite(s):
Description
Source: Drug Bank
Other Vocabularies
- ATC: Anthracyclines and related substances (L01DB)
- UMLS: Doxorubicin (C0013089)
- RxNorm: Doxorubicin (3639)
- NDFRT: DOXORUBICIN (N0000147829)
Information pulled from DrugBank has not been reviewed by PharmGKB.
Pharmacology, Interactions, and Contraindications
Mechanism of Action
Source: Drug Bank
Pharmacology
Source: Drug Bank
Food Interaction
Source: Drug Bank
Absorption, Distribution, Metabolism, Elimination & Toxicity
Clearance
Source: Drug Bank
Route of Elimination
Source: Drug Bank
Chemical Properties
SMILES
C[C@H]1[C@H]([C@H](C[C@@H](O1)O[C@H]2C[C@@](CC3=C(C4=C(C(=C23)O)C(=O)C5=C(C4=O)C=CC=C5OC)O)(C(=O)CO)O)N)O
Source: PubChem
InChI String
InChI=1S/C27H29NO11/c1-10-22(31)13(28)6-17(38-10)39-15-8-27(36,16(30)9-29)7-12-19(15)26(35)21-20(24(12)33)23(32)11-4-3-5-14(37-2)18(11)25(21)34/h3-5,10,13,15,17,22,29,31,33,35-36H,6-9,28H2,1-2H3/t10-,13-,15-,17-,22+,27-/m0/s1
Source: PubChem
PharmGKB Curated Pathways
Pathways created internally by PharmGKB based primarily on literature evidence.
-
Doxorubicin Pathway (Cancer Cell), Pharmacodynamics
Representation of the candidate genes involved in the action of doxorubicin in a stylized cancer cell.
-
Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics
Representation of the candidate genes involved in adverse effects of doxorubicin in a stylized cardiomyocyte.
-
Doxorubicin Pathway, Pharmacokinetics
Diagrammatic representation of the transport and metabolism of doxorubicin.
Publications related to doxorubicin: 245
LinkOuts
- Web Resource:
- Wikipedia
- National Drug Code Directory:
- 0703-5043-03
- DrugBank:
- DB00997
- ChEBI:
- 28748
- Drugs Product Database (DPD):
- 2194465
- BindingDB:
- 22984
- ChemSpider:
- 29400
- Therapeutic Targets Database:
- DNC000163
- FDA Drug Label at DailyMed:
- 102358dc-2109-4829-b333-b99417334e39
Clinical Trials
These are trials that mention doxorubicin and are related to either pharmacogenetics or pharmacogenomics.
NURSA Datasets
No NURSA datasets available.



