ERBB3 (P21860) variants and mutations

ERBB3 (also known as P21860) is a human protein-coding gene encoding a receptor tyrosine-protein kinase erbB-3 protein. It amplifies neuregulin and ERBB-family signaling primarily by heterodimerizing with catalytically active partners such as HER2 and strongly recruiting PI3K. Persistent signaling can promote tumor growth and resistance to targeted therapy. This analysis covers 3,272 ERBB3 variants and mutations. Of these, 50% have computational variant effect predictions. Disease context includes visceral neuropathy, familial, 1, autosomal recessive, lethal congenital contracture syndrome 2, and cancer. Example ERBB3 variants include R2G, R2K, and R2W.

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, MaveDB, LitVar.

Notable ERBB3 variants

Examples include R2G, R2K, R2W, R2M, R2S, A3G, A3T, A3E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.