CYP2A6
cytochrome P450 family 2 subfamily A member 6
Summary
This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008]
Known Variants68 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143731390 | 19:40,843,969 | T/A | missense variant | — |
| rs8192730 | 19:40,844,677 | C/G | missense variant | — |
| rs28399463 | 19:40,844,682 | T/C | missense variant | benign |
| rs376817657 | 19:40,844,766 | C/T | missense variant | — |
| rs148166815 | 19:40,845,404 | A/G | missense variant | — |
| rs763469584 | 19:40,846,903 | A/G | missense variant | — |
| rs140471703 | 19:40,846,912 | C/T | missense variant | — |
| rs28399445 | 19:40,848,263 | TGC/TA | frameshift variant | — |
| rs568811809 | 19:40,848,284 | CTT/C | frameshift variant | — |
| rs199916117 | 19:40,848,293 | T/C | missense variant | — |
| rs60563539 | 19:40,848,629 | G/T | missense variant | — |
| rs60605885 | 19:40,848,633 | G/C | missense variant | — |
| rs59552350 | 19:40,848,716 | A/C | missense variant | — |
| rs4986891 | 19:40,848,724 | C/A | missense variant | — |
| rs2839940 | 19:40,848,755 | A/G | missense variant | — |
| rs72549435 | 19:40,849,833 | C/G | missense variant | — |
| rs199545200 | 19:40,849,860 | G/A | stop gained | — |
| rs143690364 | 19:40,849,959 | C/T | missense variant | — |
| rs72549432 | 19:40,850,411 | T/G | missense variant | benign |
| rs28399434 | 19:40,850,414 | C/T | missense variant | — |
| rs556743951 | 19:41,349,197 | A/G | — | — |
| rs2259217 | 19:41,349,233 | A/G | downstream gene variant | — |
| rs28399483 | 19:41,349,497 | G/T | — | — |
| rs28399468 | 19:41,349,732 | C/A | missense variant | — |
| rs58537201 | 19:41,349,746 | A/G | — | benign |
| rs5031017 | 19:41,349,750 | C/A | missense variant | — |
| rs2516034468 | 19:41,349,766 | A/G | — | uncertain significance |
| rs5031016 | 19:41,349,774 | A/G | missense variant | — |
| rs761422918 | 19:41,349,802 | G/A | — | likely benign |
| rs143336165 | 19:41,350,600 | G/A | — | benign |
| rs56314118 | 19:41,350,630 | A/G | — | likely benign |
| rs150586234 | 19:41,351,211 | G/A | synonymous variant | — |
| rs781140086 | 19:41,351,214 | A/C | — | uncertain significance |
| rs28399454 | 19:41,351,267 | C/T | missense variant | — |
| rs757428419 | 19:41,351,288 | C/T | — | uncertain significance |
| rs374200109 | 19:41,351,354 | C/T | — | uncertain significance |
| rs2516037046 | 19:41,351,381 | C/T | — | likely benign |
| rs144437384 | 19:41,351,563 | G/C | — | — |
| rs148693084 | 19:41,351,935 | A/G | — | uncertain significance |
| rs4997557 | 19:41,351,953 | G/C | missense variant | — |
| rs766064748 | 19:41,351,956 | A/G | — | uncertain significance |
| rs746095792 | 19:41,351,997 | C/T | — | likely benign |
| rs1182943218 | 19:41,352,784 | T/G | — | uncertain significance |
| rs780129128 | 19:41,352,791 | G/A | — | uncertain significance |
| rs776087815 | 19:41,352,818 | G/C | — | uncertain significance |
| rs374784083 | 19:41,352,858 | C/A | — | uncertain significance |
| rs145148721 | 19:41,352,884 | C/T | — | uncertain significance |
| rs28399448 | 19:41,352,936 | C/T | synonymous variant | — |
| rs28399447 | 19:41,352,941 | A/G | missense variant | drug response |
| rs56113850 | 19:41,353,107 | T/C | intron variant | — |
| rs56267346 | 19:41,353,338 | A/G | intron variant | — |
| rs55921593 | 19:41,353,897 | G/T | intron variant | — |
| rs185545560 | 19:41,354,143 | G/A | — | uncertain significance |
| rs56256500 | 19:41,354,171 | G/T | missense variant | — |
| rs571335587 | 19:41,354,209 | C/A | — | likely benign |
| rs1444388085 | 19:41,354,239 | T/C | — | uncertain significance |
| rs1801272 | 19:41,354,533 | A/T | missense variant | drug response |
| rs772772650 | 19:41,354,540 | C/A | — | uncertain significance |
| rs2516041909 | 19:41,354,548 | A/C | — | uncertain significance |
| rs1967146904 | 19:41,354,644 | C/T | — | uncertain significance |
| rs72549434 | 19:41,355,754 | T/C | — | likely benign |
| rs577267650 | 19:41,355,786 | G/T | — | uncertain significance |
| rs368359507 | 19:41,355,802 | C/A | — | uncertain significance |
| rs199515342 | 19:41,355,876 | G/A | — | likely benign |
| rs149703281 | 19:41,356,313 | G/A | — | uncertain significance |
| rs28399433 | 19:41,356,379 | A/G | — | — |
| rs67210567 | 19:41,357,457 | G/T | upstream gene variant | — |
| rs7260629 | 19:41,357,632 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.