H50D (p.His50Asp) variant of GCK (Hexokinase-4)
H50D (p.His50Asp) in GCK (Hexokinase-4) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PNDM1. The record also includes published literature and structural context.
H50D (p.His50Asp) variant details
- p.His50Asp
- UniProt VAR 079437
- Pathogenic
- in PNDM1
- Missense
- EBI: Pathogenic (in PNDM1)
- UniProt: Pathogenic (in PNDM1)
- Structural context available
- Cited in: Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated… (PMID 25015100)
- Cited in: Neonatal diabetes mellitus due to complete glucokinase deficiency. (PMID 11372010)