G71A (p.Gly71Ala) variant of VKORC1 (Q9BQB6)
G71A (p.Gly71Ala) in VKORC1 (Q9BQB6) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMRES. The record also includes published literature and structural context.
G71A (p.Gly71Ala) variant details
- p.Gly71Ala
- UniProt VAR 065794
- Pathogenic
- in CMRES
- Missense
- EBI: Pathogenic (in CMRES)
- UniProt: Pathogenic (in CMRES)
- Structural context available
- Cited in: Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis… (PMID 20946155)
- Cited in: Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. (PMID 14765194)