ARID2 (Q68CP9) variants and mutations

ARID2 (also known as Q68CP9) is a human protein-coding gene encoding an AT-rich interactive domain-containing protein 2 protein. It contributes DNA targeting and regulatory specificity to PBAF chromatin-remodeling complexes. Somatic loss-of-function alterations occur in melanoma, liver cancer, and other tumors, while germline variants can cause a Coffin-Siris-spectrum neurodevelopmental disorder. This analysis covers 7,631 ARID2 variants and mutations. Of these, 34% have computational variant effect predictions. Disease context includes Coffin-Siris syndrome 6, hepatocellular carcinoma, and melanoma. Example ARID2 variants include A2S, A2E, and N3H.

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 ARID2 variants

Examples include A2S, A2E, N3H, N3N, N3K, S4S, T5M, T5R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.