CYP1A2
cytochrome P450 family 1 subfamily A member 2
Summary
This gene 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. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs56160784 | 15:74,749,801 | C/G | missense variant | — |
| rs138652540 | 15:74,749,986 | C/T | missense variant | — |
| rs72547512 | 15:74,750,240 | G/C | missense variant | — |
| rs758748797 | 15:74,750,372 | A/T | missense variant | — |
| rs35796837 | 15:74,751,252 | G/A | missense variant | — |
| rs149928755 | 15:74,753,201 | C/T | missense variant | — |
| rs144148965 | 15:74,754,843 | G/A | missense variant | — |
| rs45486893 | 15:74,754,850 | C/T | missense variant | — |
| rs143193369 | 15:74,755,022 | C/A | stop gained | — |
| rs374094758 | 15:74,755,066 | G/A | missense variant | uncertain significance |
| rs2069514 | 15:75,038,220 | G/A | upstream gene variant | — |
| rs35694136 | 15:75,039,613 | — | upstream gene variant | — |
| rs2069525 | 15:75,040,372 | T/G | — | — |
| rs2069526 | 15:75,041,341 | T/G | intron variant | — |
| rs12720461 | 15:75,041,351 | C/T | intron variant | — |
| rs762551 | 15:75,041,917 | C/A | intron variant | likely benign |
| rs751760377 | 15:75,042,101 | C/T | — | uncertain significance |
| rs72547511 | 15:75,042,204 | C/G | missense variant | — |
| rs201763966 | 15:75,042,221 | T/G | — | uncertain significance |
| rs2505554714 | 15:75,042,283 | G/A | — | uncertain significance |
| rs1236685625 | 15:75,042,299 | G/A | — | uncertain significance |
| rs779502284 | 15:75,042,357 | C/T | — | uncertain significance |
| rs17861154 | 15:75,042,385 | C/T | — | likely benign |
| rs34153904 | 15:75,042,472 | G/A | — | likely benign |
| rs2505555077 | 15:75,042,480 | C/T | — | uncertain significance |
| rs72547513 | 15:75,042,637 | C/T | synonymous variant | — |
| rs369511887 | 15:75,042,638 | G/A | — | likely benign |
| rs1271532274 | 15:75,042,722 | G/A | — | uncertain significance |
| rs765435682 | 15:75,042,767 | G/C | — | uncertain significance |
| rs2505555800 | 15:75,042,857 | T/C | — | uncertain significance |
| rs45468096 | 15:75,043,539 | C/T | — | likely benign |
| rs771876603 | 15:75,043,567 | A/G | — | uncertain significance |
| rs750975192 | 15:75,043,594 | G/T | — | uncertain significance |
| rs995673317 | 15:75,044,146 | G/A | — | uncertain significance |
| rs56276455 | 15:75,044,195 | G/A | missense variant | — |
| rs2472304 | 15:75,044,238 | G/A | intron variant | — |
| rs3743484 | 15:75,044,400 | G/A | — | — |
| rs72547515 | 15:75,044,552 | G/A | missense variant | — |
| rs750455376 | 15:75,044,576 | C/A | — | uncertain significance |
| rs72547516 | 15:75,044,578 | A/T | missense variant | — |
| rs55889066 | 15:75,045,575 | G/A | missense variant | — |
| rs56107638 | 15:75,045,612 | G/A | splice region variant | — |
| rs145557631 | 15:75,047,161 | G/T | — | uncertain significance |
| rs28399424 | 15:75,047,169 | C/T | missense variant | — |
| rs72547517 | 15:75,047,245 | G/A | missense variant | — |
| rs1289271309 | 15:75,047,278 | A/G | — | uncertain significance |
| rs751143438 | 15:75,047,280 | A/C | — | uncertain significance |
| rs571663822 | 15:75,047,337 | G/A | — | benign |
| rs2470890 | 15:75,047,426 | C/T | synonymous variant | benign |
| rs11636419 | 15:75,047,600 | A/T | — | — |
| rs17861162 | 15:75,048,753 | C/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.