Y83C (p.Tyr83Cys) variant of WAS (P42768)
Y83C (p.Tyr83Cys) in WAS (P42768) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in THC1. The record also includes published literature and structural context.
Y83C (p.Tyr83Cys) variant details
- p.Tyr83Cys
- UniProt VAR 008108
- Pathogenic
- in THC1
- Missense
- EBI: Pathogenic (in THC1)
- UniProt: Pathogenic (in THC1)
- 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: Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. (PMID 11167787)