D78E (p.Asp78Glu) variant of GCK (Hexokinase-4)
D78E (p.Asp78Glu) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monogenic diabetes. The record also includes published literature and structural context.
D78E (p.Asp78Glu) variant details
- p.Asp78Glu
- rs1219798321
- ClinGen CA367403036
- ClinVar RCV002475241
- UniProt VAR 079442
- Uncertain significance
- Monogenic diabetes
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Structural context available
- Cited in: Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. (PMID 17573900)
- Cited in: Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte… (PMID 10588527)