ARID1B (Q8NFD5) variants and mutations

ARID1B (also known as Q8NFD5) is a human protein-coding gene encoding an AT-rich interactive domain-containing protein 1B protein. It helps SWI/SNF chromatin-remodeling complexes regulate access to developmental gene programs, especially in the nervous system. Haploinsufficiency is a major cause of Coffin-Siris syndrome and related neurodevelopmental disorders. This analysis covers 7,506 ARID1B variants and mutations. Of these, 37% have computational variant effect predictions. Disease context includes Coffin-Siris syndrome, Coffin-Siris syndrome 1, and hereditary disease. Example ARID1B variants include M1?, A2P, and A2T.

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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable ARID1B variants

Examples include M1?, A2P, A2T, A2G, A2V, A2D, A2A, A3T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.