R35* (p.Arg35Ter) variant of GCK (Hexokinase-4)
R35* (p.Arg35Ter) in GCK (Hexokinase-4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
R35* (p.Arg35Ter) variant details
- p.Arg35Ter
- rs193922259
- ClinGen CA213705
- ClinVar RCV000029834
- ClinVar RCV002463995
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)