D78Y (p.Asp78Tyr) variant of GCK (Hexokinase-4)
D78Y (p.Asp78Tyr) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Monogenic diabetes. The record also includes published literature and structural context.
D78Y (p.Asp78Tyr) variant details
- p.Asp78Tyr
- rs2484535997
- ClinGen CA367403044
- ClinVar RCV003224686
- ClinVar RCV004798038
- Pathogenic
- Monogenic diabetes
- Missense
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic (in MODY2)
- UniProt: Pathogenic (in MODY2)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)