YAP1 (Transcriptional coactivator YAP1) variants and mutations

YAP1 (also known as Transcriptional coactivator YAP1) is a human protein-coding gene encoding a transcriptional coactivator protein. When Hippo signaling permits nuclear accumulation, it integrates mechanical, polarity, and growth cues to control proliferation, survival, and organ size. Persistent nuclear YAP activity contributes to many cancers, while germline loss-of-function variants can cause developmental eye abnormalities. This analysis covers 1,002 YAP1 variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes uveal coloboma-cleft lip and palate-intellectual disability, Uveal coloboma - cleft lip and palate - intellectual disability, and coloboma. Example YAP1 variants include M1L, D2N, and D2Y.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable YAP1 variants

Examples include M1L, D2N, D2Y, D2G, D2E, D2D, P3L, P3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.