CYP4B1
cytochrome P450 family 4 subfamily B member 1
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. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3215983 | 1:46,815,074 | GAT/G | frameshift variant | — |
| rs111476033 | 1:47,264,766 | T/A | — | conflicting classifications of pathogenicity |
| rs2524373176 | 1:47,264,796 | C/A | — | uncertain significance |
| rs958474459 | 1:47,264,880 | A/C | — | uncertain significance |
| rs45522235 | 1:47,264,900 | T/C | — | likely benign |
| rs7518799 | 1:47,265,970 | C/T | intron variant | — |
| rs753724766 | 1:47,276,502 | A/G | — | uncertain significance |
| rs2524424829 | 1:47,276,553 | T/C | — | uncertain significance |
| rs761368826 | 1:47,276,555 | G/A | — | uncertain significance |
| rs765044023 | 1:47,276,586 | A/G | — | uncertain significance |
| rs138753850 | 1:47,276,615 | C/T | — | uncertain significance |
| rs7513658 | 1:47,276,819 | G/A | — | benign |
| rs1011827775 | 1:47,276,830 | T/C | — | uncertain significance |
| rs747904682 | 1:47,278,213 | G/A | — | uncertain significance |
| rs2524433710 | 1:47,278,258 | A/T | — | uncertain significance |
| rs765862813 | 1:47,278,284 | C/T | — | uncertain significance |
| rs145508204 | 1:47,279,164 | A/G | — | uncertain significance |
| rs4646487 | 1:47,279,175 | C/T | missense variant | — |
| rs1243643974 | 1:47,279,188 | C/A | — | uncertain significance |
| rs758555438 | 1:47,279,693 | C/T | — | uncertain significance |
| rs139993247 | 1:47,279,694 | G/A | — | uncertain significance |
| rs151203772 | 1:47,279,699 | T/C | — | likely benign |
| rs45446505 | 1:47,279,898 | C/T | — | benign |
| rs370689909 | 1:47,279,909 | C/G | — | likely benign |
| rs377170127 | 1:47,279,946 | C/T | — | uncertain significance |
| rs141452762 | 1:47,279,947 | G/A | — | uncertain significance |
| rs774429812 | 1:47,279,950 | G/C | — | uncertain significance |
| rs45463299 | 1:47,279,954 | C/T | — | likely benign |
| rs12094024 | 1:47,280,852 | A/C | — | benign |
| rs778569400 | 1:47,280,881 | C/G | — | uncertain significance |
| rs56180718 | 1:47,280,902 | C/T | — | uncertain significance |
| rs199691504 | 1:47,280,903 | G/A | — | uncertain significance |
| rs763330238 | 1:47,280,917 | G/A | — | uncertain significance |
| rs1679291588 | 1:47,280,920 | C/A | — | uncertain significance |
| rs17102592 | 1:47,280,927 | T/G | — | benign |
| rs3766198 | 1:47,281,780 | C/T | — | — |
| rs59694031 | 1:47,282,755 | G/C | — | benign |
| rs1047656596 | 1:47,282,847 | C/G | — | uncertain significance |
| rs4646496 | 1:47,283,627 | C/T | — | benign |
| rs1368735166 | 1:47,283,682 | C/A | — | uncertain significance |
| rs1679414120 | 1:47,283,830 | G/A | — | uncertain significance |
| rs2524462370 | 1:47,283,863 | A/G | — | uncertain significance |
| rs141281141 | 1:47,283,878 | G/A | — | uncertain significance |
| rs745681511 | 1:47,284,308 | G/A | — | uncertain significance |
| rs1056690607 | 1:47,284,311 | T/G | — | uncertain significance |
| rs138678209 | 1:47,284,367 | C/T | — | uncertain significance |
| rs200623406 | 1:47,284,388 | C/T | — | uncertain significance |
| rs45622937 | 1:47,284,395 | G/A | — | benign |
| rs557491224 | 1:47,284,428 | G/A | — | uncertain significance |
| rs12059860 | 1:47,284,923 | T/C | 3 prime UTR variant | association |
Gene information from NCBI Gene. Variant classifications from ClinVar.