ERBB4 (Q15303) variants and mutations

ERBB4 (also known as Q15303) is a human protein-coding gene encoding a receptor tyrosine-protein kinase erbB-4 protein. It transduces neuregulin and other EGF-family signals important for neural, cardiac, and mammary development. Altered signaling or somatic variants occur in several cancers and have also been studied in neurodevelopmental disease. This analysis covers 3,860 ERBB4 variants and mutations. Of these, 47% have computational variant effect predictions. Disease context includes non-small cell lung carcinoma, amyotrophic lateral sclerosis, and neoplasm. Example ERBB4 variants include K2N, P3L, and P3S.

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 ERBB4 variants

Examples include K2N, P3L, P3S, A4E, A4T, A4V, T5A, T5K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.