ERBB2 (P04626) variants and mutations

ERBB2 (also known as P04626) is a human protein-coding gene encoding a receptor tyrosine-protein kinase erbB-2 protein. ERBB2, also called HER2, is a cell-surface receptor tyrosine kinase that works with other ERBB receptors to transmit growth signals. It helps organize signaling and cytoskeletal responses, and abnormal ERBB2 activity is a major feature of several cancers. This analysis covers 5,694 ERBB2 variants and mutations. Of these, 27% have computational variant effect predictions. Disease context includes non-small cell lung carcinoma, cancer, and gastric cancer. Example ERBB2 variants include E2*, E2G, and E2K.

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 ERBB2 variants

Examples include E2*, E2G, E2K, E2Q, E2V, E2E, E2D, L3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.