C73R (p.Cys73Arg) variant of WAS (P42768)
C73R (p.Cys73Arg) 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.
C73R (p.Cys73Arg) variant details
- p.Cys73Arg
- Ensembl rs1602176652
- UniProt VAR 008107
- Pathogenic
- in WAS
- Missense
- EBI: Pathogenic (in WAS)
- UniProt: Pathogenic (in WAS)
- Structural context available
- Cited in: Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and… (PMID 10447259)
- Cited in: Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations. (PMID 11793485)