ARID2

AT-rich interaction domain 2

Summary

This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and chromatin structure modification. This protein functions as a subunit of the polybromo- and BRG1-associated factor or PBAF (SWI/SNF-B) chromatin remodeling complex which facilitates ligand-dependent transcriptional activation by nuclear receptors. Mutations in this gene are associated with hepatocellular carcinomas. A pseudogene of this gene is found on chromosome1. [provided by RefSeq, Dec 2016]

Known Variants300 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs375590924	12:46,123,606	C/G	—	benign
rs868029449	12:46,123,626	A/C	—	uncertain significance
rs2137958679	12:46,123,635	G/C	—	uncertain significance
rs1374980785	12:46,123,641	G/T	—	uncertain significance
rs560068535	12:46,123,647	C/A	—	likely benign
rs2547601384	12:46,123,689	C/T	—	uncertain significance
rs995867385	12:46,123,708	G/C	—	uncertain significance
rs764956493	12:46,123,718	G/A	—	likely benign
rs2137959629	12:46,123,844	T/G	—	uncertain significance
rs201596354	12:46,123,854	G/T	—	likely benign
rs1940948860	12:46,123,855	G/C	—	uncertain significance
rs2137959723	12:46,123,858	G/C	—	uncertain significance
rs2137959735	12:46,123,859	G/A	—	uncertain significance
rs2137959902	12:46,123,896	C/G	—	likely benign
rs200775326	12:46,123,914	C/T	—	likely benign
rs2137960002	12:46,123,920	G/C	—	uncertain significance
rs67133230	12:46,124,413	A/G	regulatory region variant	—
rs2137962532	12:46,124,996	C/T	—	likely benign
rs587778057	12:46,125,040	T/G	—	uncertain significance
rs1555139562	12:46,125,059	T/G	—	uncertain significance
rs2137963069	12:46,125,097	G/A	—	uncertain significance
rs371802419	12:46,125,129	G/T	—	benign
rs80352516	12:46,151,403	A/C	—	—
rs11183201	12:46,170,982	T/C	intron variant	—
rs12580303	12:46,181,809	G/C	—	—
rs10748432	12:46,182,415	T/A	—	—
rs7955891	12:46,191,309	T/C	—	—
rs10880859	12:46,195,849	A/G	intron variant	—
rs78341918	12:46,199,798	T/C	intron variant	—
rs140285438	12:46,205,208	G/A	—	benign
rs73292513	12:46,205,255	A/C	—	likely benign
rs2138082637	12:46,205,256	C/T	—	uncertain significance
rs761936321	12:46,205,280	C/G	—	uncertain significance
rs1459853256	12:46,205,326	G/C	—	uncertain significance
rs17774927	12:46,211,396	T/C	—	benign
rs773370365	12:46,211,448	G/A	—	likely benign
rs554503964	12:46,211,495	C/G	—	uncertain significance
rs749833945	12:46,211,519	T/A	—	conflicting classifications of pathogenicity
rs1555149372	12:46,211,576	C/T	—	uncertain significance
rs2138093496	12:46,211,629	A/G	—	uncertain significance
rs2138093902	12:46,211,676	G/A	—	uncertain significance
rs2059404	12:46,215,163	G/A	—	benign
rs2547643971	12:46,215,240	G/A	—	pathogenic
rs7976870	12:46,223,774	G/T	intron variant	—
rs1555152193	12:46,230,363	T/G	—	likely pathogenic
rs200449496	12:46,230,524	A/G	—	likely benign
rs2138126544	12:46,230,542	G/A	—	likely pathogenic
rs769348347	12:46,230,569	C/T	—	uncertain significance
rs1943228378	12:46,230,571	C/T	—	pathogenic
rs2138127522	12:46,230,641	C/T	—	likely pathogenic
rs773972649	12:46,230,656	A/G	—	uncertain significance
rs2138127858	12:46,230,679	C/T	—	uncertain significance
rs916056847	12:46,230,692	G/A	—	uncertain significance
rs777713882	12:46,231,104	C/G	—	uncertain significance
rs796052242	12:46,231,108	T/A	stop gained	pathogenic
rs2138130355	12:46,231,137	C/T	—	uncertain significance
rs2138130396	12:46,231,145	G/A	—	uncertain significance
rs1943242602	12:46,231,280	G/A	—	pathogenic
rs778844463	12:46,231,282	C/T	—	uncertain significance
rs746373817	12:46,231,396	G/A	—	likely benign
rs1298547134	12:46,231,409	T/G	—	uncertain significance
rs2138132586	12:46,231,439	G/C	—	uncertain significance
rs2138136386	12:46,233,111	G/C	—	pathogenic
rs886041882	12:46,233,119	—	—	pathogenic
rs138343177	12:46,233,140	T/C	—	likely benign
rs201532081	12:46,233,155	C/T	—	likely benign
rs1943292533	12:46,233,169	C/A	—	uncertain significance
rs748902977	12:46,233,195	A/C	—	likely benign
rs1327439079	12:46,233,210	A/G	—	likely benign
rs2138137344	12:46,233,226	G/A	—	uncertain significance
rs374540100	12:46,233,228	C/T	—	uncertain significance
rs2138137396	12:46,233,233	A/T	—	uncertain significance
rs149755754	12:46,233,253	C/G	—	likely benign
rs1178169227	12:46,233,267	G/C	—	uncertain significance
rs2138137688	12:46,233,268	C/T	—	uncertain significance
rs369756763	12:46,233,276	C/T	—	uncertain significance
rs2138137803	12:46,233,284	G/A	—	uncertain significance
rs144591817	12:46,240,639	C/G	—	likely benign
rs148462633	12:46,240,658	G/A	—	likely benign
rs745890862	12:46,240,661	G/A	—	likely benign
rs61925813	12:46,240,664	T/C	—	likely benign
rs1387137586	12:46,240,677	C/G	—	uncertain significance
rs1338176527	12:46,240,711	C/T	—	uncertain significance
rs2138150784	12:46,240,721	G/A	—	pathogenic
rs2138150818	12:46,240,726	T/G	—	uncertain significance
rs1943488528	12:46,242,617	A/T	—	likely pathogenic
rs1485251463	12:46,242,626	G/T	—	uncertain significance
rs1943489555	12:46,242,668	G/C	—	likely benign
rs771945901	12:46,242,686	C/G	—	uncertain significance
rs1423871055	12:46,242,690	C/T	—	uncertain significance
rs1331723696	12:46,242,711	G/C	—	uncertain significance
rs776411576	12:46,242,730	A/C	—	likely benign
rs879255529	12:46,242,746	—	—	pathogenic
rs113548014	12:46,243,361	A/G	—	likely pathogenic
rs76994389	12:46,243,365	C/T	—	conflicting classifications of pathogenicity
rs2138156492	12:46,243,382	A/G	—	uncertain significance
rs78128744	12:46,243,406	A/G	—	benign
rs144928351	12:46,243,455	C/G	—	uncertain significance
rs2138157209	12:46,243,484	C/T	—	pathogenic
rs150280339	12:46,243,515	G/A	—	uncertain significance

Showing 100 of 300 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.