ETV5 (ETS translocation variant 5) variants and mutations

ETV5 (also known as ETS translocation variant 5) is a human protein-coding gene encoding an ETS translocation variant 5 protein. It regulates growth-factor-responsive transcription during development and contributes to germ-cell, neural, and epithelial differentiation. Dysregulated expression can promote oncogenic growth and invasion, although recurrent pathogenic germline associations are less established. This analysis covers 816 ETV5 variants and mutations. Of these, 64% have computational variant effect predictions. Disease context includes Abnormality of the skeletal system, obesity disorder, and obstructive sleep apnea syndrome. Example ETV5 variants include M1?, D2I, and G3E.

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 ETV5 variants

Examples include M1?, D2I, G3E, G3R, G3W, F4I, F4S, D6H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.