AKR1C1
aldo-keto reductase family 1 member C1
Summary
This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs771188283 | 10:5,005,644 | C/T | — | uncertain significance |
| rs781200594 | 10:5,005,710 | C/T | — | uncertain significance |
| rs755613712 | 10:5,005,712 | C/T | — | uncertain significance |
| rs41305661 | 10:5,005,860 | G/T | regulatory region variant | — |
| rs7073738 | 10:5,006,098 | G/A | upstream gene variant | — |
| rs1564314735 | 10:5,008,131 | C/G | — | uncertain significance |
| rs146428466 | 10:5,008,140 | T/G | — | likely benign |
| rs768582635 | 10:5,008,149 | A/T | — | uncertain significance |
| rs149295644 | 10:5,008,183 | A/T | — | uncertain significance |
| rs375752583 | 10:5,009,138 | G/C | — | uncertain significance |
| rs764599338 | 10:5,009,141 | C/G | — | uncertain significance |
| rs140966911 | 10:5,009,188 | T/C | — | benign |
| rs778903438 | 10:5,009,216 | A/C | — | uncertain significance |
| rs145648894 | 10:5,009,739 | T/G | upstream gene variant | — |
| rs2904804 | 10:5,009,759 | G/C | — | — |
| rs1138600 | 10:5,010,572 | A/G | — | likely benign |
| rs774073745 | 10:5,011,072 | A/G | — | uncertain significance |
| rs149814010 | 10:5,011,074 | C/T | — | uncertain significance |
| rs373617440 | 10:5,014,408 | T/C | — | uncertain significance |
| rs2491295555 | 10:5,014,415 | A/G | — | uncertain significance |
| rs782505662 | 10:5,014,438 | T/G | — | uncertain significance |
| rs782186892 | 10:5,014,501 | T/C | — | uncertain significance |
| rs782101460 | 10:5,014,792 | C/T | — | uncertain significance |
| rs1176444053 | 10:5,014,813 | G/T | — | uncertain significance |
| rs1422567939 | 10:5,014,822 | G/T | — | uncertain significance |
| rs140396306 | 10:5,014,844 | G/A | — | uncertain significance |
| rs782566121 | 10:5,014,845 | A/C | — | likely benign |
| rs201229586 | 10:5,014,855 | C/G | — | uncertain significance |
| rs2491296541 | 10:5,014,920 | G/T | — | uncertain significance |
| rs781973844 | 10:5,014,922 | G/T | — | uncertain significance |
| rs142200840 | 10:5,014,935 | C/A | — | benign |
| rs1172941067 | 10:5,019,906 | C/T | — | uncertain significance |
| rs56136181 | 10:5,020,919 | C/T | 3 prime UTR variant | — |
| rs6601888 | 10:5,025,639 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.