ARID1A (O14497) variants and mutations

ARID1A (also known as O14497) is a human protein-coding gene encoding an AT-rich interactive domain-containing protein 1A protein. It helps BAF chromatin-remodeling complexes open or reposition nucleosomes at regulatory regions and thereby control lineage-specific transcription. Somatic loss is frequent in several cancers, while germline haploinsufficiency can cause Coffin-Siris syndrome. This analysis covers 10,785 ARID1A variants and mutations. Of these, 43% have computational variant effect predictions. Disease context includes intellectual disability, autosomal dominant 14, Coffin-Siris syndrome, and urinary bladder cancer. Example ARID1A variants include M1R, M1T, and A2S.

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, ClinGen, MaveDB, LitVar.

Notable ARID1A variants

Examples include M1R, M1T, A2S, A2T, A2V, A2D, A2A, A3G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.