VKORC1 Chromosome 16

Vitamin K epoxide reductase complex subunit 1

14 variants 9 Drug Response 5 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

Vitamin K epoxide reductase complex subunit 1 family

Locus Type

gene with protein product

Location

16p11.2

Ensembl

ENSG00000167397

Associated Conditions (15)

Warfarin response

warfarin response - Dosage

Vitamin K-dependent clotting factors

combined deficiency of

type 2

Thrombus

VKORC1-related disorder

phenprocoumon response - Toxicity

phenprocoumon response - Dosage

warfarin response - Toxicity

Venous thromboembolism

acenocoumarol response - Dosage

warfarin response - Efficacy

See cases

Hereditary combined deficiency of vitamin K-dependent clotting factors

Key Variants

RS104894542

drug response

Warfarin response, Warfarin response

Drug Response

RS2359612

drug response

warfarin response - Dosage, warfarin response - Dosage

Drug Response

RS2884737

drug response

warfarin response - Dosage, warfarin response - Dosage

Drug Response

RS397509427

drug response

Warfarin response, Warfarin response

Drug Response

RS61742245

drug response

Warfarin response, Vitamin K-dependent clotting factors, combined deficiency of

Drug Response

RS7294

drug response

warfarin response - Dosage, Vitamin K-dependent clotting factors, combined deficiency of

Drug Response

RS8050894

drug response

warfarin response - Dosage, warfarin response - Dosage

Drug Response

RS9923231

drug response

Warfarin response, phenprocoumon response - Toxicity, phenprocoumon response - Dosage

Drug Response

RS9934438

drug response

Warfarin response, warfarin response - Dosage, acenocoumarol response - Dosage

Drug Response

RS72547529

Conflicting classifications of pathogenicity

Warfarin response, Vitamin K-dependent clotting factors, combined deficiency of

Health Risk

RS72547528

Likely pathogenic

Vitamin K-dependent clotting factors, combined deficiency of, type 2

Health Risk

RS104894539

Pathogenic

Warfarin response, Warfarin response

Health Risk

Drug Interactions (1)

Warfarin dose_adjustment strong

RS9923231

VKORC1 — affects warfarin sensitivity, key for dosing

All Variants (14)

RSID	Category	Clinical Significance	Conditions
RS104894542	Drug Response	drug response	Warfarin response, Warfarin response
RS2359612	Drug Response	drug response	warfarin response - Dosage, warfarin response - Dosage
RS2884737	Drug Response	drug response	warfarin response - Dosage, warfarin response - Dosage
RS397509427	Drug Response	drug response	Warfarin response, Warfarin response
RS61742245	Drug Response	drug response	Warfarin response, Vitamin K-dependent clotting factors, combined deficiency of
RS7294	Drug Response	drug response	warfarin response - Dosage, Vitamin K-dependent clotting factors, combined deficiency of
RS8050894	Drug Response	drug response	warfarin response - Dosage, warfarin response - Dosage
RS9923231	Drug Response	drug response	Warfarin response, phenprocoumon response - Toxicity, phenprocoumon response - Dosage
RS9934438	Drug Response	drug response	Warfarin response, warfarin response - Dosage, acenocoumarol response - Dosage
RS72547529	Health Risk	Conflicting classifications of pathogenicity	Warfarin response, Vitamin K-dependent clotting factors, combined deficiency of
RS72547528	Health Risk	Likely pathogenic	Vitamin K-dependent clotting factors, combined deficiency of, type 2
RS104894539	Health Risk	Pathogenic	Warfarin response, Warfarin response
RS104894540	Health Risk	Pathogenic	Warfarin response, Warfarin response
RS104894541	Health Risk	Pathogenic	Warfarin response, Warfarin response