D63N (p.Asp63Asn) variant of GBA1 (P04062)
D63N (p.Asp63Asn) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gaucher disease. The record also includes published literature and structural context.
D63N (p.Asp63Asn) variant details
- p.Asp63Asn
- UniProt VAR 032395
- Likely pathogenic
- Gaucher disease
- Missense
- ClinVar: Likely pathogenic (Gaucher disease)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Structural context available
- Cited in: Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease… (PMID 15605411)
- Cited in: A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online. (PMID 10206680)