W99C (p.Trp99Cys) variant of GCK (Hexokinase-4)
W99C (p.Trp99Cys) in GCK (Hexokinase-4) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HHF3. The record also includes published literature and structural context.
W99C (p.Trp99Cys) variant details
- p.Trp99Cys
- UniProt VAR 078245
- Pathogenic
- in HHF3
- Missense
- EBI: Pathogenic (in HHF3)
- UniProt: Pathogenic (in HHF3)
- Structural context available
- Cited in: Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its… (PMID 28247534)
- Cited in: The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy. (PMID 11916951)