ARID1A Chromosome 1

AT-rich interaction domain 1A
224 variants 1 Drug Response 223 Health Risk

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What This Gene Does
This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"AT-rich interaction domain containing|Armadillo like helical domain containing|BAF complex subunits"
Locus Type
gene with protein product
Location
1p36.11
Ensembl
ENSG00000117713
Associated Conditions (24)
AKT1 Inhibitor response
Colorectal cancer
Endometrial carcinoma
Inborn genetic diseases
ARID1A-related disorder
Intellectual disability
autosomal dominant 14
Marfanoid habitus and intellectual disability
Coffin-Siris syndrome
Autism spectrum disorder
Nonpapillary renal cell carcinoma
Clear cell carcinoma of kidney
Sarcoma
ARID1A-related BAFopathy
6 conditions
Astrocytoma
Ependymoma
Neurodevelopmental delay
Neoplasm
Malignant tumor of urinary bladder
+4 more conditions
Key Variants
All Variants (224)
RSID Category Clinical Significance Conditions
RS2080268991 Health Risk Conflicting classifications of pathogenicity
RS2080280611 Health Risk Conflicting classifications of pathogenicity
RS2080280639 Health Risk Conflicting classifications of pathogenicity
RS2080998350 Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS2081163988 Health Risk Conflicting classifications of pathogenicity
RS2081172419 Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS2081175768 Health Risk Conflicting classifications of pathogenicity
RS2124103896 Health Risk Conflicting classifications of pathogenicity
RS2124126066 Health Risk Conflicting classifications of pathogenicity
RS2124149645 Health Risk Conflicting classifications of pathogenicity ARID1A-related BAFopathy, ARID1A-related BAFopathy
RS2124152477 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2124740134 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14, Intellectual disability
RS369532498 Health Risk Conflicting classifications of pathogenicity
RS369923774 Health Risk Conflicting classifications of pathogenicity
RS370901533 Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS370983765 Health Risk Conflicting classifications of pathogenicity
RS372878743 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375417370 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARID1A-related disorder, Inborn genetic diseases
RS375761808 Health Risk Conflicting classifications of pathogenicity 6 conditions, Intellectual disability, autosomal dominant 14
RS375849292 Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome, Coffin-Siris syndrome
RS571264557 Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS745873673 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14, Intellectual disability
RS748085214 Health Risk Conflicting classifications of pathogenicity Astrocytoma, Inborn genetic diseases, ARID1A-related disorder
RS748512916 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749452696 Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS749970078 Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS750489139 Health Risk Conflicting classifications of pathogenicity
RS753205954 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753334968 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753590871 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754650765 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755338885 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14, Inborn genetic diseases
RS757458581 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14, Intellectual disability
RS758295438 Health Risk Conflicting classifications of pathogenicity
RS759215669 Health Risk Conflicting classifications of pathogenicity
RS759913677 Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, Inborn genetic diseases, ARID1A-related disorder
RS760749276 Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS761025553 Health Risk Conflicting classifications of pathogenicity
RS761975620 Health Risk Conflicting classifications of pathogenicity
RS764556085 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768377977 Health Risk Conflicting classifications of pathogenicity
RS775923229 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776157620 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776238347 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776451390 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14, Intellectual disability
RS777557012 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14, Intellectual disability
RS777762320 Health Risk Conflicting classifications of pathogenicity
RS777773061 Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome, Coffin-Siris syndrome
RS778345898 Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS778655919 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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