CYP2B6
cytochrome P450 family 2 subfamily B member 6
Pharmacogene
Summary
This gene, CYP2B6, 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 some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
Known Variants88 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs34883432 | 19:40,991,367 | A/T | missense variant | likely benign |
| rs33973337 | 19:40,991,381 | A/T | missense variant | — |
| rs33980385 | 19:40,991,388 | A/G | missense variant | — |
| rs33926104 | 19:40,991,390 | C/A | missense variant | — |
| rs34284776 | 19:40,991,391 | G/C | missense variant | — |
| rs36060847 | 19:41,004,125 | G/A | missense variant | — |
| rs35773040 | 19:41,004,381 | G/A | missense variant | likely benign |
| rs145884402 | 19:41,004,406 | G/T | missense variant | — |
| rs3826711 | 19:41,006,919 | C/G | missense variant | — |
| rs36056539 | 19:41,006,923 | C/T | missense variant | — |
| rs45482602 | 19:41,009,350 | C/A | missense variant | likely benign |
| rs139029625 | 19:41,010,006 | G/C | missense variant | — |
| rs34698757 | 19:41,010,088 | C/G | missense variant | — |
| rs193922917 | 19:41,010,108 | C/A | missense variant | — |
| rs34826503 | 19:41,012,339 | C/T | missense variant | — |
| rs35979566 | 19:41,012,693 | T/A | missense variant | — |
| rs193922918 | 19:41,012,740 | G/A | missense variant | — |
| rs35010098 | 19:41,012,803 | C/A | missense variant | — |
| rs3211369 | 19:41,016,726 | A/G | missense variant | — |
| rs564083989 | 19:41,016,778 | G/A | missense variant | — |
| rs4802101 | 19:41,496,461 | T/C | upstream gene variant | — |
| rs34223104 | 19:41,497,129 | T/C | upstream gene variant | — |
| rs34477445 | 19:41,497,256 | T/C | — | likely benign |
| rs150742423 | 19:41,497,264 | C/A | — | likely benign |
| rs8192709 | 19:41,497,274 | C/A | missense variant | — |
| rs771501582 | 19:41,497,340 | C/G | — | uncertain significance |
| rs35303484 | 19:41,497,346 | A/G | missense variant | — |
| rs10403955 | 19:41,509,438 | T/G | intron variant | — |
| rs281864907 | 19:41,509,920 | T/A | stop gained | drug response |
| rs199704872 | 19:41,509,936 | G/A | — | uncertain significance |
| rs372295360 | 19:41,510,027 | G/A | — | uncertain significance |
| rs148009906 | 19:41,510,038 | G/T | — | uncertain significance |
| rs1435601876 | 19:41,510,047 | G/C | — | uncertain significance |
| rs186335453 | 19:41,510,063 | G/T | missense variant | drug response |
| rs780098230 | 19:41,510,066 | A/G | — | uncertain significance |
| rs139801276 | 19:41,510,208 | T/C | missense variant | drug response |
| rs12721655 | 19:41,510,282 | A/G | missense variant | likely benign |
| rs770483455 | 19:41,510,312 | G/A | — | uncertain significance |
| rs775473137 | 19:41,510,328 | T/C | — | uncertain significance |
| rs183040778 | 19:41,510,339 | C/T | — | uncertain significance |
| rs1381773828 | 19:41,510,350 | G/T | — | uncertain significance |
| rs4803419 | 19:41,512,792 | C/T | intron variant | — |
| rs373819171 | 19:41,512,815 | C/T | — | uncertain significance |
| rs3745274 | 19:41,512,841 | G/T | missense | drug response |
| rs140582290 | 19:41,512,848 | A/G | — | uncertain significance |
| rs373489637 | 19:41,512,873 | T/G | missense variant | drug response |
| rs36079186 | 19:41,512,918 | T/C | missense variant | drug response |
| rs558163100 | 19:41,512,944 | T/C | — | uncertain significance |
| rs371424910 | 19:41,512,962 | T/C | missense variant | drug response |
| rs12721646 | 19:41,515,107 | C/T | intron variant | — |
| rs376359134 | 19:41,515,192 | G/A | — | likely benign |
| rs35349987 | 19:41,515,201 | C/A | — | likely benign |
| rs2279343 | 19:41,515,263 | A/G | missense | benign |
| rs2516186553 | 19:41,515,267 | C/A | — | uncertain significance |
| rs189970623 | 19:41,515,273 | C/T | — | likely benign |
| rs773494867 | 19:41,515,275 | A/T | — | uncertain significance |
| rs2279344 | 19:41,515,483 | G/A | intron variant | — |
| rs2279345 | 19:41,515,702 | T/G | — | — |
| rs28399499 | 19:41,515,810 | T/C | missense | drug response |
| rs1315971029 | 19:41,515,957 | C/T | — | uncertain significance |
| rs370251507 | 19:41,518,223 | G/A | — | uncertain significance |
| rs758110901 | 19:41,518,235 | G/A | — | uncertain significance |
| rs567219326 | 19:41,518,245 | G/A | — | uncertain significance |
| rs553658831 | 19:41,518,260 | A/G | — | uncertain significance |
| rs565980641 | 19:41,518,266 | G/C | — | uncertain significance |
| rs2516191878 | 19:41,518,281 | A/G | — | uncertain significance |
| rs375020909 | 19:41,518,319 | G/A | — | uncertain significance |
| rs34097093 | 19:41,518,370 | C/T | stop gained | drug response |
| rs200458614 | 19:41,518,371 | G/A | — | uncertain significance |
| rs200334437 | 19:41,518,399 | G/A | — | likely benign |
| rs35449271 | 19:41,518,573 | C/T | — | likely benign |
| rs1969304235 | 19:41,518,585 | G/A | — | uncertain significance |
| rs2144677233 | 19:41,518,642 | G/A | — | uncertain significance |
| rs35661880 | 19:41,518,644 | C/T | — | likely benign |
| rs1248271457 | 19:41,518,677 | T/A | — | uncertain significance |
| rs867126676 | 19:41,518,678 | G/T | — | uncertain significance |
| rs8192719 | 19:41,518,773 | C/A | — | — |
| rs4802104 | 19:41,521,527 | A/T | — | — |
| rs7260329 | 19:41,521,638 | G/T | — | — |
| rs8109848 | 19:41,522,069 | G/A | — | — |
| rs758789145 | 19:41,522,575 | G/T | — | uncertain significance |
| rs143488417 | 19:41,522,579 | C/T | — | likely benign |
| rs146956370 | 19:41,522,591 | A/G | — | likely benign |
| rs368531402 | 19:41,522,642 | C/T | — | likely benign |
| rs147410578 | 19:41,522,670 | C/T | — | uncertain significance |
| rs3211371 | 19:41,522,715 | C/T | missense | — |
| rs148520554 | 19:41,522,728 | G/A | — | uncertain significance |
| rs1042389 | 19:41,524,153 | T/C | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.