ARID1A-related BAFopathy: genes and variants
ARID1A-related BAFopathy is linked to 1 analyzed protein (ARID1A). 2 DNA variants are known to cause it; 3 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to ARID1A-related BAFopathy
ARID1A: AT-rich interactive domain-containing protein 1A
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.
2 disease-causing and 3 uncertain variants in ARID1A are linked to ARID1A-related BAFopathy.
Known disease-causing variants in ARID1A-related BAFopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ARID1A L1049R | 1049 | ARID | Disease-causing (★) |
| ARID1A D1050Y | 1050 | ARID | Disease-causing (★) |
Diseases related to ARID1A-related BAFopathy
- Colorectal cancer, also linked to ARID1A
- Coffin-Siris syndrome, also linked to ARID1A
- Lung adenocarcinoma, also linked to ARID1A
- Hepatocellular carcinoma, also linked to ARID1A
Frequently asked questions
Which genes are linked to ARID1A-related BAFopathy?
In CATVariant, ARID1A-related BAFopathy is linked to 1 analyzed protein: ARID1A (AT-rich interactive domain-containing protein 1A).
How many genetic variants are linked to ARID1A-related BAFopathy?
5 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 3 are of uncertain significance or have conflicting reports.
Which uncertain variants in ARID1A-related BAFopathy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center