Q38* (p.Gln38Ter) variant of GCK (Hexokinase-4)
Q38* (p.Gln38Ter) in GCK (Hexokinase-4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q38* (p.Gln38Ter) variant details
- p.Gln38Ter
- rs878853246
- ClinGen CA10581556
- ClinVar RCV000225041
- ClinVar RCV002464012
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)