E80K (p.Glu80Lys) variant of GBA1 (P04062)
E80K (p.Glu80Lys) in GBA1 (P04062) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in GD2. The record also includes published literature and structural context.
E80K (p.Glu80Lys) variant details
- p.Glu80Lys
- cosmic curated COSV10589
- UniProt VAR 009033
- Pathogenic
- in GD2
- Missense
- EBI: Pathogenic (in GD2)
- UniProt: Pathogenic (in GD2)
- Structural context available
- Cited in: A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease. (PMID 9851895)
- Cited in: Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients. (PMID 10360404)