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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 "Drugs" column lead to PharmGKB Drug Pages.
|
Variant?
(build 132) |
Alternate Names ? | Drugs ? |
Alleles
?
(+ chr strand) |
Function ? |
Amino Acid?
Translation |
|
|---|---|---|---|---|---|---|
| rs111033610 | A > G | Missense | Ser224Pro | |||
| rs1801272 | CYP2A6:50707A>T, c.479T>A, g.13622751A>T, g.46046373A>T, g.50707A>T, g.6820T>A, p.Leu160His | A > T | Missense | Leu160His | ||
| rs28399433 | CYP2A6:52553A>G, g.13624597A>C, g.4974T>G, g.52553A>C | C/A | 5' Flanking | |||
| rs28399434 | c.13G>A, g.13624537C>T, g.5034G>A, g.52493C>T, p.Gly5Arg | C > T | Missense | Gly5Arg | ||
| rs28399435 | C > T | Missense | Ser29Asn | |||
| rs28399444 | CYP2A6:50364-50365delTT | T > TT | Frameshift | Lys196Lys | ||
| rs28399454 | CYP2A6:47441C>T, c.1093G>A, g.10086G>A, g.13619485C>T, g.47441C>T, p.Val365Met | C > T | Missense | Val365Met | ||
| rs28399468 | CYP2A6:45906C>A, c.1454G>T, g.11621G>T, g.13617950C>A, g.45906C>A, p.Arg485Leu | C > A | Missense | Arg485Leu | ||
| rs4986891 | c.383G>T, g.13622847C>A, g.50803C>A, g.6724G>T, p.Arg128Leu | C > A | Missense | Arg128Leu | ||
| rs5031016 | CYP2A6:45948A>G, c.1412T>C, g.11579T>C, g.13617992A>G, g.45948A>G, p.Ile471Thr | A > G | Missense | Ile471Thr | ||
| rs5031017 | c.1436G>T, g.11603G>T, g.13617968C>A, g.45924C>A, p.Gly479Val | C > A | Missense | Gly479Val | ||
| rs56256500 | CYP2A6*23, CYP2A6:2161C>T, CYP2A6:R203C, c.607C>A, g.13622389G>T, g.50345G>T, g.7182C>A, p.Arg203Ser | C > A | Missense | Arg203Ser | ||
| rs8192720 | G > A | Synonymous | Leu8Leu | |||
| rs8192725 | G/A | Intronic | ||||
| rs8192726 | C/A | Intronic |
Overview
Details
| Cytogenetic Location: | chr19 : q13.2 - q13.2 |
|---|---|
| GP mRNA Boundary†: | chr19 : 41349443 - 41356352 |
| GP Gene Boundary†: | chr19 : 41346443 - 41366352 |
| Strand: | minus |
| Product Name: | No data available |
All alleles are displayed on the positive chromosomal strand.
| Haplotype | rs1801272 | rs1809810 | rs28399433 | rs28399434 | rs28399435 | rs28399454 | rs28399468 | rs4986891 | rs5031016 | rs5031017 |
|---|---|---|---|---|---|---|---|---|---|---|
| CYP2A6*1A | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1C | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1D | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1E | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1F | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1G | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1H | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1J | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1K | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1L | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*2 | T | T | A | C | C | C | C | C | A | C |
| CYP2A6*3 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*4A | del | del | del | del | del | del | del | del | del | del |
| CYP2A6*4B | del | del | del | del | del | del | del | del | del | del |
| CYP2A6*4C | del | del | del | del | del | del | del | del | del | del |
| CYP2A6*4D | del | del | del | del | del | del | del | del | del | del |
| CYP2A6*4E | del | del | del | del | del | del | del | del | del | del |
| CYP2A6*4F | del | del | del | del | del | del | del | del | del | del |
| CYP2A6*4G | del | del | del | del | del | del | del | del | del | del |
| CYP2A6*4H | del | del | del | del | del | del | del | del | del | del |
| CYP2A6*5 | A | T | A | C | C | C | C | C | A | A |
| CYP2A6*6 | A | T | A | C | C | C | C | T | A | C |
| CYP2A6*7 | A | T | A | C | C | C | C | C | G | C |
| CYP2A6*8 | A | T | A | C | C | C | A | C | A | C |
| CYP2A6*9A | A | T | C | C | C | C | C | C | A | C |
| CYP2A6*9B | A | T | C | C | C | C | C | C | A | C |
| CYP2A6*10 | A | T | A | C | C | C | A | C | G | C |
| CYP2A6*11 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*12A | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*12B | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*12C | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*13 | A | T | C | T | C | C | C | C | A | C |
| CYP2A6*14 | A | T | A | C | T | C | C | C | A | C |
| CYP2A6*15 | A | T | C | C | C | C | C | C | A | C |
| CYP2A6*16 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*17 | A | T | A | C | C | T | C | C | A | C |
| CYP2A6*18A | A | A | A | C | C | C | C | C | A | C |
| CYP2A6*18B | A | A | A | C | C | C | C | C | A | C |
| CYP2A6*18C | A | A | A | C | C | C | C | C | A | C |
| CYP2A6*19 | A | A | A | C | C | C | C | C | G | C |
| CYP2A6*1B1 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1B2 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1B3 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1B4 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1B5 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1B6 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1B7 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1B8 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1B9 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1B10 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1B11 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1B12 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1B13 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1B14 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1B15 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1B16 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1B17 | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1X2A | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*1X2B | A | T | A | C | C | C | C | C | A | C |
| CYP2A6*20 | N | T | A | C | C | C | C | C | A | A |
| CYP2A6*21 | N | T | A | C | C | C | C | C | A | C |
| CYP2A6*22 | N | T | A | C | C | C | C | C | A | C |
| CYP2A6*23 | N | T | A | C | C | C | C | C | A | C |
| CYP2A6*24A | N | T | A | C | C | C | C | C | A | C |
| CYP2A6*24B | N | T | A | C | C | C | C | C | A | C |
| CYP2A6*25 | N | T | A | C | C | C | C | C | A | C |
| CYP2A6*26 | N | T | A | C | C | C | C | C | A | C |
| CYP2A6*27 | N | T | A | C | C | C | C | C | A | C |
| CYP2A6*28A | N | T | A | C | C | C | C | C | A | C |
| CYP2A6*28B | N | T | A | C | C | C | C | C | A | C |
| CYP2A6*31A | N | T | A | C | C | C | C | C | A | C |
| CYP2A6*31B | N | T | A | C | C | C | C | C | A | C |
| CYP2A6*34 | N | T | A | C | C | C | C | C | A | C |
| CYP2A6*35A | N | T | A | C | C | C | C | C | A | C |
| CYP2A6*35B | N | T | A | C | C | C | C | C | A | C |
| CYP2A6*36 | N | T | A | C | C | C | C | C | G | C |
| CYP2A6*37 | N | T | A | C | C | C | C | C | G | C |
PharmGKB Curated Pathways
Pathways created internally by PharmGKB based primarily on literature evidence.
-
Caffeine Pathway, Pharmacokinetics
Stylized liver cell showing candidate genes involved in the metabolism of caffeine.
-
Carbamazepine Pathway, Pharmacokinetics
Stylized liver cell depicting candidate genes involved in the pharmacokinetics of carbamazepine.
-
Cyclophosphamide Pathway, Pharmacokinetics
Model human liver cell showing genes involved in the metabolism of cyclophosphamide.
-
Fluoropyrimidine Pathway, Pharmacokinetics
Representation of the metabolic pathways for fluoropyrimidines.
-
Ifosfamide Pathway, Pharmacokinetics
Model human liver cell showing genes involved in the metabolism of ifosfamide.
-
Nicotine Pathway, Pharmacokinetics
Summary of nicotine metabolism in human liver cell.
-
Phenytoin Pathway, Pharmacokinetics
Genes involved in the metabolism of phenytoin in the human liver cell.
-
Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics
Representation of candidate genes involved in the metabolism of zidovudine and its mechanism of antiviral action.
External Pathways
Links to non-PharmGKB pathways.
Datasets
- A chemogenomic approach to drug discovery: focus on cardiovascular diseases
- An association of CYP2A6 genotype and smoking topography
- CYP2A6 genotype and the metabolism and disposition kinetics of nicotine
- CYP2B6 Genotype Alters Abstinence Rates in a Bupropion Smoking Cessation Trial
- CYP2B6 Genotype Does Not Alter Nicotine Metabolism, Plasma Levels, or Abstinence with Nicotine Replacement Therapy
- Identification of Novel CYP2A6*1B Variants: The CYP2A6*1B Allele is Associated With Faster In Vivo Nicotine Metabolism
- Impact of CYP2A6 genotype on pretreatment smoking behaviour and nicotine levels from and usage of nicotine replacement therapy
- Impact of CYP2A6 genotype on pretreatment smoking behaviour and nicotine levels from and usage of nicotine replacement therapy.
- Nicotine metabolite ratio predicts efficacy of transdermal nicotine for smoking cessation
- P450s involved in Efavirenz Metabolism
- Toward Personalized Therapy for Smoking Cessation: A Randomized Placebo-controlled Trial of Bupropion
LinkOuts
- Web Resource:
- http://www.imm.ki.se/CYPalleles/cyp2a6.htm
- UniProtKB:
- CP2A6_HUMAN (P11509)
- Ensembl:
- ENSG00000198077
- GenAtlas:
- CYP2A6
- GeneCard:
- GC19M041351 (1548)
- SOURCE:
- CYP2A6
Common Searches
Non-Curated Publications
A list of non-curated publications that mention this gene is available.