CYP2A13
cytochrome P450 family 2 subfamily A member 13
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. Although its endogenous substrate has not been determined, it is known to metabolize 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, a major nitrosamine specific to tobacco. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
Known Variants62 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8192784 | 19:41,088,545 | G/A | missense variant | — |
| rs148044792 | 19:41,089,050 | G/A | missense variant | — |
| rs57082577 | 19:41,090,100 | G/GCCA | inframe insertion | — |
| rs112337232 | 19:41,090,177 | C/G | missense variant | — |
| rs761528278 | 19:41,094,263 | T/C | missense variant | — |
| rs72547590 | 19:41,095,814 | T/A | missense variant | — |
| rs138870349 | 19:41,095,936 | C/T | missense variant | — |
| rs747282955 | 19:41,594,422 | A/T | — | uncertain significance |
| rs2516249493 | 19:41,594,468 | G/A | — | uncertain significance |
| rs778644278 | 19:41,594,471 | A/G | — | uncertain significance |
| rs981836979 | 19:41,594,548 | C/T | — | uncertain significance |
| rs2516249661 | 19:41,594,552 | T/C | — | uncertain significance |
| rs1249224832 | 19:41,594,861 | A/G | — | uncertain significance |
| rs770474654 | 19:41,594,900 | G/A | — | uncertain significance |
| rs2516250447 | 19:41,594,944 | G/T | — | uncertain significance |
| rs72552266 | 19:41,594,954 | C/T | stop gained | — |
| rs751293256 | 19:41,595,954 | G/T | — | uncertain significance |
| rs141733817 | 19:41,595,969 | G/C | — | uncertain significance |
| rs761118346 | 19:41,596,002 | A/G | — | uncertain significance |
| rs762374305 | 19:41,596,006 | C/T | — | uncertain significance |
| rs779032831 | 19:41,596,029 | G/A | — | uncertain significance |
| rs1599653851 | 19:41,596,051 | G/A | — | uncertain significance |
| rs760222098 | 19:41,596,053 | A/T | — | uncertain significance |
| rs1325004339 | 19:41,596,069 | G/A | — | uncertain significance |
| rs748526923 | 19:41,596,099 | A/G | — | likely benign |
| rs1645690 | 19:41,596,133 | A/G | regulatory region variant | — |
| rs1466392273 | 19:41,596,341 | C/A | — | uncertain significance |
| rs1331572024 | 19:41,596,354 | A/G | — | uncertain significance |
| rs769429044 | 19:41,596,374 | T/C | — | uncertain significance |
| rs774185503 | 19:41,596,399 | A/G | — | uncertain significance |
| rs1215576612 | 19:41,596,461 | A/G | — | uncertain significance |
| rs1180521085 | 19:41,597,640 | T/C | — | uncertain significance |
| rs745670637 | 19:41,597,656 | C/T | — | uncertain significance |
| rs762012088 | 19:41,597,670 | C/T | — | likely benign |
| rs752102241 | 19:41,597,715 | G/A | — | uncertain significance |
| rs763570614 | 19:41,597,724 | A/G | — | uncertain significance |
| rs8192789 | 19:41,597,751 | C/T | missense variant | — |
| rs2031197112 | 19:41,597,767 | A/C | — | uncertain significance |
| rs766780855 | 19:41,597,776 | G/A | — | uncertain significance |
| rs768082507 | 19:41,597,788 | A/G | — | uncertain significance |
| rs764806309 | 19:41,597,803 | G/A | — | uncertain significance |
| rs185552988 | 19:41,598,125 | A/G | intron variant | — |
| rs746156726 | 19:41,599,632 | T/C | — | uncertain significance |
| rs549735222 | 19:41,599,634 | C/T | — | uncertain significance |
| rs1353564810 | 19:41,599,650 | T/C | — | uncertain significance |
| rs2031240985 | 19:41,599,669 | G/T | — | likely benign |
| rs200636194 | 19:41,600,182 | G/A | — | uncertain significance |
| rs761531618 | 19:41,600,237 | C/G | — | uncertain significance |
| rs531432463 | 19:41,600,261 | T/C | — | uncertain significance |
| rs759711890 | 19:41,600,318 | G/A | — | uncertain significance |
| rs745865005 | 19:41,600,868 | C/T | — | uncertain significance |
| rs113962713 | 19:41,600,911 | G/C | — | uncertain significance |
| rs202218822 | 19:41,600,925 | C/T | — | uncertain significance |
| rs145584508 | 19:41,600,957 | A/G | — | likely benign |
| rs187762561 | 19:41,600,993 | C/T | — | uncertain significance |
| rs1363005263 | 19:41,601,683 | G/C | — | uncertain significance |
| rs1403292566 | 19:41,601,703 | G/A | — | uncertain significance |
| rs2144728968 | 19:41,601,705 | G/T | — | uncertain significance |
| rs372106718 | 19:41,601,715 | T/G | — | uncertain significance |
| rs759283954 | 19:41,601,740 | T/G | — | uncertain significance |
| rs368131195 | 19:41,601,803 | C/G | — | uncertain significance |
| rs1709084 | 19:41,602,470 | A/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.