CYP2E1
cytochrome P450 family 2 subfamily E member 1
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. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided by RefSeq, Jul 2008]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3813865 | 10:135,339,244 | G/C | downstream gene variant | — |
| rs3813867 | 10:135,339,605 | G/C | downstream gene variant | no classification for the single variant |
| rs2031920 | 10:135,339,845 | C/T | downstream gene variant | no classification for the single variant |
| rs2070672 | 10:135,340,548 | A/G | downstream gene variant | — |
| rs2070673 | 10:135,340,567 | A/T | downstream gene variant | — |
| rs6413420 | 10:135,340,829 | G/T | downstream gene variant | — |
| rs367957731 | 10:135,340,948 | C/T | — | uncertain significance |
| rs759372423 | 10:135,341,026 | G/A | — | uncertain significance |
| rs2494095419 | 10:135,341,035 | T/C | — | likely benign |
| rs143746211 | 10:135,341,054 | A/G | — | uncertain significance |
| rs374426412 | 10:135,341,994 | C/G | — | uncertain significance |
| rs72559710 | 10:135,342,034 | G/A | missense variant | — |
| rs756973880 | 10:135,342,039 | G/A | — | uncertain significance |
| rs28371740 | 10:135,342,101 | G/A | — | benign |
| rs764296273 | 10:135,342,117 | C/T | — | uncertain significance |
| rs543855005 | 10:135,342,118 | C/T | — | uncertain significance |
| rs915906 | 10:135,343,738 | C/T | upstream gene variant | — |
| rs8192772 | 10:135,344,711 | T/C | upstream gene variant | — |
| rs373427672 | 10:135,345,212 | T/G | — | uncertain significance |
| rs201167793 | 10:135,345,633 | C/G | — | uncertain significance |
| rs6413419 | 10:135,345,675 | G/T | missense variant | — |
| rs28371743 | 10:135,345,752 | T/C | — | benign |
| rs772559232 | 10:135,345,764 | C/T | — | likely benign |
| rs577159401 | 10:135,345,777 | C/T | — | uncertain significance |
| rs12257054 | 10:135,346,018 | A/G | upstream gene variant | — |
| rs41299426 | 10:135,346,202 | A/G | — | likely benign |
| rs2494104299 | 10:135,346,274 | A/G | — | uncertain significance |
| rs2494104310 | 10:135,346,281 | A/G | — | uncertain significance |
| rs748268978 | 10:135,346,326 | A/G | — | likely benign |
| rs766501004 | 10:135,346,335 | G/A | — | uncertain significance |
| rs915908 | 10:135,346,959 | G/A | upstream gene variant | — |
| rs749979006 | 10:135,347,279 | G/A | — | uncertain significance |
| rs771160948 | 10:135,347,305 | G/A | — | uncertain significance |
| rs28371746 | 10:135,347,343 | C/A | — | benign |
| rs915909 | 10:135,347,397 | T/C | synonymous variant | benign |
| rs4646976 | 10:135,347,727 | A/G | intron variant | — |
| rs8192775 | 10:135,348,026 | G/T | — | — |
| rs6413432 | 10:135,348,544 | T/A | intron variant | association |
| rs743535 | 10:135,349,367 | G/A | intron variant | — |
| rs1329149 | 10:135,349,801 | T/C | intron variant | — |
| rs146344065 | 10:135,350,643 | C/G | — | benign |
| rs150514905 | 10:135,350,648 | T/G | — | uncertain significance |
| rs2494110422 | 10:135,350,654 | C/G | — | uncertain significance |
| rs2070676 | 10:135,351,137 | G/T | — | — |
| rs55897648 | 10:135,351,264 | G/A | missense variant | — |
| rs59656378 | 10:135,351,285 | G/C | — | likely benign |
| rs2515641 | 10:135,351,362 | T/G | missense variant | benign |
| rs2249694 | 10:135,352,153 | A/T | — | — |
| rs2249695 | 10:135,352,168 | T/C | intron variant | — |
| rs28969387 | 10:135,352,356 | A/T | — | benign |
| rs55982231 | 10:135,352,437 | G/A | — | likely benign |
| rs2480256 | 10:135,352,514 | A/T | — | — |
| rs2515644 | 10:135,353,079 | A/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.