VKORC1 (Q9BQB6) variants and mutations

VKORC1 (also known as Q9BQB6) is a human protein-coding gene encoding a vitamin K epoxide reductase complex subunit 1 protein. It recycles vitamin K to support gamma-carboxylation of coagulation proteins and is the direct pharmacologic target of warfarin. Common variants strongly influence warfarin dose requirements, while rare variants can cause warfarin resistance or vitamin-K-dependent clotting-factor deficiency. This analysis covers 395 VKORC1 variants and mutations. Of these, 85% have computational variant effect predictions. Disease context includes Hereditary combined deficiency of vitamin K-dependent clotting factors, vitamin K-dependent clotting factors, combined deficiency of, type 2, and atrial fibrillation. Example VKORC1 variants include M1I, G2D, and G2S.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable VKORC1 variants

Examples include M1I, G2D, G2S, S3R, T4A, T4N, T4S, W5*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.