CYP3A43
cytochrome P450 family 3 subfamily A member 43
Pharmacogene
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 encoded protein has a low level of testosterone hydroxylase activity, and may play a role in aging mechanisms and cancer progression. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs61469810 | 7:99,434,078 | — | frameshift variant | — |
| rs1563059952 | 7:99,434,165 | T/C | — | uncertain significance |
| rs376007798 | 7:99,441,770 | T/C | — | uncertain significance |
| rs538636991 | 7:99,441,981 | C/A | — | — |
| rs4646474 | 7:99,445,132 | C/T | — | benign |
| rs45450092 | 7:99,445,791 | G/T | — | benign |
| rs368001388 | 7:99,447,207 | C/T | — | uncertain significance |
| rs770850974 | 7:99,447,281 | A/C | — | uncertain significance |
| rs2546701870 | 7:99,447,308 | C/G | — | uncertain significance |
| rs2546707526 | 7:99,453,247 | C/A | — | uncertain significance |
| rs1267781611 | 7:99,453,300 | A/G | — | likely benign |
| rs375460552 | 7:99,453,311 | G/A | — | likely benign |
| rs1369963474 | 7:99,453,320 | T/A | — | uncertain significance |
| rs1301705611 | 7:99,454,477 | C/A | — | uncertain significance |
| rs139450738 | 7:99,454,486 | G/A | — | likely benign |
| rs2546709311 | 7:99,454,510 | A/G | — | likely benign |
| rs368834095 | 7:99,457,453 | C/T | — | uncertain significance |
| rs747225147 | 7:99,457,524 | A/T | — | likely benign |
| rs1047054320 | 7:99,457,593 | G/A | — | uncertain significance |
| rs680055 | 7:99,457,605 | C/G | missense variant | benign |
| rs776420558 | 7:99,459,246 | C/T | — | uncertain significance |
| rs752977243 | 7:99,459,254 | G/A | — | uncertain significance |
| rs17342647 | 7:99,459,256 | C/G | synonymous variant | — |
| rs2546714525 | 7:99,459,264 | A/C | — | uncertain significance |
| rs146058406 | 7:99,459,366 | T/G | — | uncertain significance |
| rs2546714829 | 7:99,459,401 | A/G | — | uncertain significance |
| rs1299212332 | 7:99,461,164 | A/G | — | uncertain significance |
| rs766004058 | 7:99,461,204 | T/C | — | uncertain significance |
| rs1217855623 | 7:99,461,243 | G/A | — | uncertain significance |
| rs753522427 | 7:99,461,279 | G/C | — | uncertain significance |
| rs759645964 | 7:99,855,666 | T/A | stop gained | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.