NTRK1 (P04629) variants and mutations

NTRK1 (also known as P04629) is a human protein-coding gene encoding a high affinity nerve growth factor receptor protein. Nerve-growth-factor signaling through this pathway supports survival and differentiation of sensory and sympathetic neurons. Loss-of-function variants cause congenital insensitivity to pain with anhidrosis, whereas oncogenic NTRK1 fusions can drive diverse cancers. This analysis covers 3,221 NTRK1 variants and mutations. Of these, 44% have computational variant effect predictions. Disease context includes hereditary sensory and autonomic neuropathy type 4, non-small cell lung carcinoma, and neoplasm. Example NTRK1 variants include M1?, M1I, and M1K.

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 NTRK1 variants

Examples include M1?, M1I, M1K, M1L, L2L, L2M, L2Q, L2P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.