R34* (p.Arg34Ter) variant of WAS (P42768)

Name: WAS R34* (p.Arg34Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-19
License: https://catvariant.com/terms-of-use

R34* (p.Arg34Ter) in WAS (P42768) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

R34* (p.Arg34Ter) variant details

p.Arg34Ter
rs132630271
ClinGen CA341005
ClinVar RCV000011868
ClinVar RCV003764558
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible… (PMID 8595430)
Cited in: WAS-Related Disorders. (PMID 20301357)