WAS (P42768) variants and mutations

WAS (also known as P42768) is a human protein-coding gene encoding an actin nucleation-promoting factor protein. It couples signaling from immune receptors to actin-cytoskeleton remodeling, enabling immune synapse formation, cell migration, and normal platelet production. Loss-of-function variants cause Wiskott-Aldrich syndrome or X-linked thrombocytopenia, while activating variants can cause severe congenital neutropenia. This analysis covers 788 WAS variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes Wiskott-Aldrich syndrome, thrombocytopenia 1, and X-linked severe congenital neutropenia. Example WAS variants include M1L, S2T, and S2S.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable WAS variants

Examples include M1L, S2T, S2S, S2R, G3R, G3A, G3G, G4C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.