T82I (p.Thr82Ile) variant of GCK (Hexokinase-4)
T82I (p.Thr82Ile) 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.
T82I (p.Thr82Ile) variant details
- p.Thr82Ile
- rs2484535943
- ClinGen CA367402995
- ClinVar RCV002308507
- UniProt VAR 079444
- 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: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)