Y289C (p.Tyr289Cys) variant of GCK (Hexokinase-4)
Y289C (p.Tyr289Cys) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Maturity-onset diabetes of the young type 2. The record also includes published literature and structural context.
Y289C (p.Tyr289Cys) variant details
- p.Tyr289Cys
- rs2484507546
- ClinGen CA367400246
- ClinVar RCV002290240
- ClinVar RCV003560936
- Pathogenic/Likely pathogenic
- not provided; Maturity-onset diabetes of the young type 2
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Maturity-onset diabetes of the young type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)