G70W (p.Gly70Trp) variant of WAS (P42768)
G70W (p.Gly70Trp) in WAS (P42768) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in WAS. The record also includes published literature and structural context.
G70W (p.Gly70Trp) variant details
- p.Gly70Trp
- UniProt VAR 012711
- Pathogenic
- in WAS
- Missense
- EBI: Pathogenic (in WAS)
- UniProt: Pathogenic (in WAS)
- Structural context available
- Cited in: Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations. (PMID 11793485)
- Cited in: Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and… (PMID 10447259)