ETV4 (ETS translocation variant 4) variants and mutations

ETV4 (also known as ETS translocation variant 4) is a human protein-coding gene encoding an ETS translocation variant 4 protein. It activates transcriptional programs downstream of RAS-MAPK signaling that promote proliferation, invasion, and developmental patterning. Rearrangements or overexpression can drive prostate cancer and several rare sarcomas. This analysis covers 827 ETV4 variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes neurodegenerative disease, prostate carcinoma, and prostate adenocarcinoma. Example ETV4 variants include E2D, E2K, and E2Q.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable ETV4 variants

Examples include E2D, E2K, E2Q, R3P, R3Q, R3W, R4W, M5I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.