WWTR1 (Q9GZV5) variants and mutations

WWTR1 (also known as Q9GZV5) is a human protein-coding gene encoding a WW domain-containing transcription regulator protein 1 protein. When Hippo signaling and mechanical cues permit nuclear accumulation, it promotes growth, survival, and lineage-specific gene programs when nuclear. Persistent activation supports tumor progression, and oncogenic WWTR1 fusions define selected soft-tissue tumors. This analysis covers 672 WWTR1 variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes gastric carcinoma, esophageal adenocarcinoma, and pancreatic ductal adenocarcinoma. Example WWTR1 variants include M1?, N2H, and P3A.

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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable WWTR1 variants

Examples include M1?, N2H, P3A, P3L, A4T, A4V, A6P, A6V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.