ETV1 (ETS translocation variant 1) variants and mutations

ETV1 (also known as ETS translocation variant 1) is a human protein-coding gene encoding an ETS translocation variant 1 protein. It controls lineage-specific transcription in neuronal, prostate, and other tissues downstream of MAPK signaling. Gene fusions or overexpression can act oncogenically, especially in prostate cancer and selected gastrointestinal stromal tumors. This analysis covers 939 ETV1 variants and mutations. Of these, 67% have computational variant effect predictions. Disease context includes type 2 diabetes mellitus, hair color, and benign prostatic hyperplasia. Example ETV1 variants include G3E, F4S, and F4Y.

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 ETV1 variants

Examples include G3E, F4S, F4Y, D6E, Q8L, Q8P, Q8R, V9A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.