NTRK3 (NT-3 growth factor receptor) variants and mutations

NTRK3 (also known as NT-3 growth factor receptor) is a human protein-coding gene encoding a NT-3 growth factor receptor protein. Neurotrophin-3 signaling through this pathway supports neuronal differentiation and survival. Constitutively active NTRK3 fusion kinases, most notably ETV6::NTRK3, drive several otherwise unrelated cancers and are highly actionable with TRK inhibitors. This analysis covers 2,992 NTRK3 variants and mutations. Of these, 45% have computational variant effect predictions. Disease context includes cancer, non-small cell lung carcinoma, and neoplasm. Example NTRK3 variants include D2G, D2V, and S4C.

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 NTRK3 variants

Examples include D2G, D2V, S4C, L5F, L5V, P7Q, P7R, P7S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.