CTNNB1 (Catenin beta-1) variants and mutations

CTNNB1 (also known as Catenin beta-1) is a human protein-coding gene encoding a catenin beta-1 protein. It links cadherins to the cytoskeleton at adherens junctions and, when stabilized by Wnt signaling, enters the nucleus to regulate transcription. Activating somatic variants drive many cancers, while germline loss-of-function variants cause CTNNB1 neurodevelopmental disorder. This analysis covers 3,448 CTNNB1 variants and mutations. Of these, 25% have computational variant effect predictions. Disease context includes severe intellectual disability-progressive spastic diplegia syndrome, pilomatrixoma, and hepatocellular carcinoma. Example CTNNB1 variants include M1?, M1V, and A2G.

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 CTNNB1 variants

Examples include M1?, M1V, A2G, A2T, A2P, T3A, T3I, T3N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.