G80D (p.Gly80Asp) variant of GCK (Hexokinase-4)
G80D (p.Gly80Asp) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Maturity-onset diabetes of the young type 2. The record also includes published literature and structural context.
G80D (p.Gly80Asp) variant details
- p.Gly80Asp
- UniProt VAR 079443
- Likely pathogenic
- Maturity-onset diabetes of the young type 2
- Missense
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young type 2)
- 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)