ETS1 (Protein C-ets-1) variants and mutations

ETS1 (also known as Protein C-ets-1) is a human protein-coding gene encoding a protein C-ets-1 protein. It regulates transcriptional programs involved in lymphocyte development, immune activation, angiogenesis, and cell differentiation. Altered dosage or activity contributes to autoimmunity and cancer, particularly through disturbed immune-cell and growth-control programs. This analysis covers 528 ETS1 variants and mutations. Of these, 61% have computational variant effect predictions. Disease context includes type 2 diabetes mellitus, systemic lupus erythematosus, and psoriasis. Example ETS1 variants include M1?, K2N, and A4V.

Variant analysis overview

Gene: ETS1
Protein: Protein C-ets-1
UniProt accession: P14921
Organism: Homo sapiens
Variants analyzed: 528
Variant scope: all variants
Completed: 2026-08-20

Variant and mutation evidence

Variant composition: 237 unspecified-consequence records; 2 stop lost; 196 missense variants; 77 synonymous variants; 4 stop-gained variants; 1 splice-region variants; 10 frameshift variants; 1 substitution
Prediction scores: 322 variants have prediction scores (61% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: type 2 diabetes mellitus, systemic lupus erythematosus, psoriasis, rheumatoid arthritis, neurodegenerative disease, celiac disease, atopic eczema, open-angle glaucoma, Eczematoid dermatitis, kidney failure, psoriasis vulgaris, glaucoma.

Protein structure and variant hotspots

Protein features: 1 domains; 12 post-translational modification sites.
Structural context: 57 variants have structural context.
PTM context: 14 variants overlap post-translational modification sites.
Experimental data: 81 protein positions have experimental scores. Source: ETS1 Pointed domain domainome 1.0.

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 ETS1 variants

Examples include M1?, K2N, A4V, V5F, D6N, K8R, P9A, P9L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

ETS1 analysis run — ETS1 (528 variants) — completed 2026-08-20