C62W (p.Cys62Trp) variant of GBA1 (P04062)
C62W (p.Cys62Trp) in GBA1 (P04062) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in GD1. The record also includes published literature and structural context.
C62W (p.Cys62Trp) variant details
- p.Cys62Trp
- UniProt VAR 081188
- Pathogenic
- in GD1
- Missense
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Structural context available
- Cited in: Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for… (PMID 24434810)
- Cited in: A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online. (PMID 10206680)