NTRK2 (Q16620) variants and mutations

NTRK2 (also known as Q16620) is a human protein-coding gene encoding a BDNF/NT-3 growth factors receptor protein. BDNF and neurotrophin-4 signaling through this pathway promotes neuronal survival, synaptic plasticity, and circuit maturation. Rare germline variants can cause neurodevelopmental or metabolic phenotypes, while oncogenic NTRK2 fusions can drive diverse cancers. This analysis covers 2,449 NTRK2 variants and mutations. Of these, 36% have computational variant effect predictions. Disease context includes obesity, hyperphagia, and developmental delay, non-small cell lung carcinoma, and neoplasm. Example NTRK2 variants include S2*, S2A, and S2L.

Variant analysis overview

Gene: NTRK2
Protein: Q16620
UniProt accession: Q16620
Organism: Homo sapiens
Variants analyzed: 2449
Variant scope: all variants
Completed: 2026-08-18

Variant and mutation evidence

Variant composition: 2,283 unspecified-consequence records; 75 synonymous variants; 74 missense variants; 1 in-frame deletions; 6 frameshift variants; 2 stop-gained variants; 1 protein altering variant; 6 splice-region variants; 1 substitution
Prediction scores: 880 variants have prediction scores (36% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: obesity, hyperphagia, and developmental delay, non-small cell lung carcinoma, neoplasm, cancer, genetic developmental and epileptic encephalopathy, neurodegenerative disease, keratitis, undetermined early-onset epileptic encephalopathy, infantile spasms, pancreatic ductal adenocarcinoma, hereditary disease, pilocytic astrocytoma.

Protein structure and variant hotspots

Protein features: 1 transmembrane segments; 5 domains; 2 binding sites; 16 post-translational modification sites.
Structural context: 1,669 variants have structural context.
PTM context: 48 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable NTRK2 variants

Examples include S2*, S2A, S2L, S2W, S2S, S3C, S3P, S3T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

NTRK2 analysis run — NTRK2 (2,449 variants) — completed 2026-08-18