BRD4 (Bromodomain-containing protein 4) variants and mutations

BRD4 (also known as Bromodomain-containing protein 4) is a human protein-coding gene encoding a bromodomain-containing protein 4 protein. It remains associated with acetylated chromatin and recruits transcriptional elongation machinery to sustain expression of growth and identity genes. Cancer cells can become highly dependent on BRD4-driven transcription, making it a major target of BET inhibitors and protein degraders. This analysis covers 2,719 BRD4 variants and mutations. Of these, 86% have computational variant effect predictions. Disease context includes Cornelia de Lange syndrome 6, Cornelia de Lange syndrome, and neoplasm. Example BRD4 variants include S2C, S2F, and A3V.

Variant analysis overview

Gene: BRD4
Protein: Bromodomain-containing protein 4
UniProt accession: O60885
Organism: Homo sapiens
Variants analyzed: 2719
Variant scope: all variants
Completed: 2026-08-19

Variant and mutation evidence

Variant composition: 2,434 unspecified-consequence records; 118 synonymous variants; 124 missense variants; 2 splice-region variants; 14 stop-gained variants; 15 in-frame deletions; 3 frameshift variants; 8 in-frame insertions; 1 substitution
Prediction scores: 2,336 variants have prediction scores (86% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: Cornelia de Lange syndrome 6, Cornelia de Lange syndrome, neoplasm, syndromic intellectual disability, 3q26 microduplication syndrome, hereditary disease, esophageal squamous cell carcinoma, nut midline carcinoma, colon adenocarcinoma, cutaneous melanoma, skin squamous cell carcinoma, squamous cell lung carcinoma.

Protein structure and variant hotspots

Protein features: 3 domains; 14 post-translational modification sites.
Structural context: 382 variants have structural context.
PTM context: 29 variants overlap post-translational modification sites.
Experimental data: 67 protein positions have experimental scores. Source: BRD4 NET 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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable BRD4 variants

Examples include S2C, S2F, A3V, E4*, S5N, G6A, G6S, P7H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

BRD4 analysis run — BRD4 (2,719 variants) — completed 2026-08-19