VKORC1
vitamin K epoxide reductase complex subunit 1
Summary
This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for carboxylation of glutamic acid residues by vitamin K-dependent gamma-carboxylase in blood-clotting enzymes. Allelic variation in this gene is associated with vitamin k-dependent clotting factors combined deficiency of 2, and increased resistance or sensitivity to warfarin, an inhibitor of vitamin K epoxide reductase. Pseudogenes of this gene are located on chromosomes 1 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201075024 | 16:31,099,000 | C/T | — | benign |
| rs886051932 | 16:31,102,210 | C/T | — | uncertain significance |
| rs141753512 | 16:31,102,212 | C/T | — | likely benign |
| rs2057284100 | 16:31,102,283 | A/T | — | uncertain significance |
| rs886051933 | 16:31,102,310 | A/G | — | uncertain significance |
| rs7294 | 16:31,102,321 | C/T | upstream gene variant | drug response |
| rs2057286230 | 16:31,102,445 | G/C | — | uncertain significance |
| rs2057286672 | 16:31,102,500 | A/G | — | uncertain significance |
| rs104894542 | 16:31,102,564 | A/C | missense variant | drug response |
| rs777707816 | 16:31,102,568 | C/T | — | uncertain significance |
| rs7200749 | 16:31,102,589 | G/A | synonymous variant | benign |
| rs753570105 | 16:31,102,595 | C/G | — | likely benign |
| rs2057287810 | 16:31,102,605 | G/C | — | uncertain significance |
| rs72547528 | 16:31,102,655 | G/A | missense variant | pathogenic |
| rs2359612 | 16:31,103,796 | A/G | regulatory region variant | drug response |
| rs2544125466 | 16:31,104,173 | G/A | — | uncertain significance |
| rs370105350 | 16:31,104,175 | C/T | — | likely benign |
| rs371197517 | 16:31,104,185 | T/C | — | benign |
| rs8050894 | 16:31,104,509 | C/T | — | likely benign |
| rs200133418 | 16:31,104,649 | T/A | — | uncertain significance |
| rs201044348 | 16:31,104,713 | T/C | — | benign |
| rs145273772 | 16:31,104,714 | G/A | — | uncertain significance |
| rs2544126628 | 16:31,104,734 | C/T | — | uncertain significance |
| rs766549609 | 16:31,104,752 | G/A | — | likely benign |
| rs9934438 | 16:31,104,878 | G/A | regulatory region variant | pathogenic |
| rs61742245 | 16:31,104,878 | G/T | missense | drug response |
| rs72547529 | 16:31,105,274 | C/T | missense | conflicting classifications of pathogenicity |
| rs17708472 | 16:31,105,353 | G/A | regulatory region variant | benign |
| rs2884737 | 16:31,105,554 | A/C | regulatory region variant | drug response |
| rs201515545 | 16:31,105,867 | C/A | — | uncertain significance |
| rs104894541 | 16:31,105,879 | T/C | missense variant | pathogenic |
| rs104894540 | 16:31,105,917 | A/G | missense variant | pathogenic |
| rs61742233 | 16:31,105,922 | G/A | — | likely benign |
| rs2057315206 | 16:31,105,934 | G/A | — | uncertain significance |
| rs774078258 | 16:31,105,939 | C/G | — | uncertain significance |
| rs104894539 | 16:31,105,966 | C/A | missense variant | pathogenic |
| rs759258204 | 16:31,105,987 | G/A | — | uncertain significance |
| rs771891906 | 16:31,105,997 | C/A | — | uncertain significance |
| rs993371943 | 16:31,106,011 | C/T | — | uncertain significance |
| rs55894764 | 16:31,106,015 | C/A | — | uncertain significance |
| rs752892359 | 16:31,106,037 | C/G | — | uncertain significance |
| rs886042699 | 16:31,106,048 | C/T | — | uncertain significance |
| rs745707367 | 16:31,106,052 | A/G | — | uncertain significance |
| rs759852599 | 16:31,106,095 | C/T | — | uncertain significance |
| rs569737355 | 16:31,106,210 | C/G | — | uncertain significance |
| rs9923231 | 16:31,107,689 | C/T | regulatory region variant | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.