CYP2C8
cytochrome P450 family 2 subfamily C member 8
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 its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
Known Variants61 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3832694 | 10:95,037,216 | TCAA/T | inframe deletion | — |
| rs10509681 | 10:95,038,992 | T/C | missense variant | — |
| rs78637571 | 10:95,045,951 | C/A | stop gained | — |
| rs769460274 | 10:95,058,414 | T/C | missense variant | — |
| rs188934928 | 10:95,058,442 | C/G | missense variant | — |
| rs72558195 | 10:95,064,886 | G/A | stop gained | — |
| rs142886225 | 10:95,064,931 | C/T | missense variant | — |
| rs72558196 | 10:95,067,213 | GT/G | frameshift variant | — |
| rs1058932 | 10:96,796,861 | G/A | 3 prime UTR variant | — |
| rs2492716458 | 10:96,797,042 | C/T | — | uncertain significance |
| rs11572177 | 10:96,797,270 | T/C | intron variant | — |
| rs1934953 | 10:96,797,470 | C/T | intron variant | association |
| rs1934951 | 10:96,798,548 | C/T | intron variant | — |
| rs2032942002 | 10:96,798,717 | C/A | — | uncertain significance |
| rs898459930 | 10:96,798,721 | G/T | — | uncertain significance |
| rs10509681 | 10:96,798,749 | T/C | missense variant | association |
| rs143386810 | 10:96,798,795 | C/T | — | likely benign |
| rs1341164 | 10:96,800,873 | T/C | intron variant | — |
| rs77147096 | 10:96,802,703 | C/T | — | likely benign |
| rs11188150 | 10:96,802,737 | G/A | — | benign |
| rs2492729823 | 10:96,802,754 | T/C | — | uncertain significance |
| rs267602642 | 10:96,802,770 | C/T | — | likely benign |
| rs774148619 | 10:96,805,594 | G/T | — | uncertain significance |
| rs745821391 | 10:96,805,597 | G/C | — | uncertain significance |
| rs11572139 | 10:96,808,886 | G/A | intron variant | — |
| rs1934980 | 10:96,808,973 | A/C | — | — |
| rs1341162 | 10:96,810,612 | C/T | intron variant | — |
| rs56028148 | 10:96,810,668 | C/T | intron variant | — |
| rs1113129 | 10:96,811,045 | G/C | intron variant | — |
| rs11572103 | 10:96,818,106 | T/A | missense variant | benign |
| rs1058930 | 10:96,818,119 | G/C | missense variant | benign |
| rs2492761696 | 10:96,818,148 | G/C | — | uncertain significance |
| rs1031948070 | 10:96,818,154 | C/G | — | uncertain significance |
| rs2033352438 | 10:96,818,157 | G/C | — | uncertain significance |
| rs781159467 | 10:96,818,158 | G/T | — | uncertain significance |
| rs2033353214 | 10:96,818,169 | C/T | — | likely benign |
| rs11188161 | 10:96,819,177 | T/A | — | — |
| rs11188162 | 10:96,819,213 | G/C | — | — |
| rs77794699 | 10:96,820,570 | G/A | intron variant | — |
| rs142308077 | 10:96,822,283 | A/G | intron variant | — |
| rs111328885 | 10:96,823,812 | C/A | intron variant | — |
| rs2033523595 | 10:96,824,585 | A/C | — | uncertain significance |
| rs748616823 | 10:96,824,590 | T/G | — | uncertain significance |
| rs2492780491 | 10:96,824,654 | A/G | — | uncertain significance |
| rs41286886 | 10:96,824,658 | T/C | — | benign |
| rs772144986 | 10:96,824,679 | G/A | — | uncertain significance |
| rs150790274 | 10:96,824,691 | G/A | — | likely benign |
| rs3752988 | 10:96,824,883 | T/C | — | association |
| rs11572082 | 10:96,826,922 | C/G | intron variant | — |
| rs11572081 | 10:96,826,966 | C/T | — | benign |
| rs1589449251 | 10:96,826,990 | A/T | — | likely benign |
| rs1220595921 | 10:96,827,024 | A/G | — | uncertain significance |
| rs11572080 | 10:96,827,030 | C/T | missense variant | benign |
| rs145992929 | 10:96,827,052 | G/A | — | uncertain significance |
| rs2492789134 | 10:96,827,394 | C/T | — | uncertain significance |
| rs1402775528 | 10:96,827,433 | C/G | — | uncertain significance |
| rs2071426 | 10:96,828,323 | T/C | intron variant | benign |
| rs748678162 | 10:96,829,005 | T/C | — | uncertain significance |
| rs944376559 | 10:96,829,069 | G/A | — | uncertain significance |
| rs7909236 | 10:96,829,430 | G/T | upstream gene variant | — |
| rs17110453 | 10:96,829,529 | A/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.