ARID1A
AT-rich interaction domain 1A
Summary
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]
Known Variants1,107 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs573303670 | 1:27,022,320 | G/A | — | likely benign |
| rs565325921 | 1:27,022,385 | T/C | — | likely benign |
| rs561568918 | 1:27,022,868 | C/T | — | benign |
| rs1421881390 | 1:27,022,888 | G/T | — | uncertain significance |
| rs2124739661 | 1:27,022,896 | T/C | — | uncertain significance |
| rs1333869920 | 1:27,022,898 | G/A | — | uncertain significance |
| rs960279959 | 1:27,022,907 | G/A | — | uncertain significance |
| rs1296885198 | 1:27,022,916 | G/A | — | uncertain significance |
| rs1339353653 | 1:27,022,918 | C/G | — | likely benign |
| rs112262001 | 1:27,022,930 | C/T | — | benign |
| rs2080253926 | 1:27,022,949 | C/G | — | uncertain significance |
| rs2124739963 | 1:27,022,954 | G/A | — | likely benign |
| rs2124740000 | 1:27,022,960 | G/C | — | likely benign |
| rs1557569082 | 1:27,022,961 | G/T | — | conflicting classifications of pathogenicity |
| rs1390669317 | 1:27,022,966 | G/C | — | likely benign |
| rs942482061 | 1:27,022,969 | G/A | — | benign |
| rs1039830124 | 1:27,022,975 | C/T | — | benign |
| rs2080254501 | 1:27,022,985 | C/G | — | uncertain significance |
| rs1388125925 | 1:27,022,989 | G/A | — | uncertain significance |
| rs1396134602 | 1:27,022,990 | G/A | — | likely benign |
| rs1327651890 | 1:27,023,000 | G/A | — | uncertain significance |
| rs2080254972 | 1:27,023,002 | G/T | — | likely benign |
| rs933617964 | 1:27,023,004 | G/A | — | conflicting classifications of pathogenicity |
| rs1057522894 | 1:27,023,005 | C/T | — | likely benign |
| rs2124740267 | 1:27,023,010 | C/T | — | benign |
| rs1295137307 | 1:27,023,016 | C/T | — | conflicting classifications of pathogenicity |
| rs1409885099 | 1:27,023,017 | G/A | — | benign |
| rs1319653200 | 1:27,023,020 | G/A | — | likely benign |
| rs2124740341 | 1:27,023,024 | G/C | — | uncertain significance |
| rs2124740346 | 1:27,023,027 | G/A | — | uncertain significance |
| rs892415319 | 1:27,023,029 | C/T | — | likely benign |
| rs1161259379 | 1:27,023,032 | G/A | — | likely benign |
| rs2124740380 | 1:27,023,033 | C/T | — | uncertain significance |
| rs1010764343 | 1:27,023,034 | G/A | — | benign |
| rs1216784088 | 1:27,023,042 | A/G | — | benign |
| rs1343083864 | 1:27,023,055 | C/T | — | uncertain significance |
| rs1001634270 | 1:27,023,056 | C/T | — | benign |
| rs1482791997 | 1:27,023,057 | G/A | — | uncertain significance |
| rs2124740536 | 1:27,023,060 | C/T | — | pathogenic |
| rs1034809221 | 1:27,023,061 | A/T | — | benign |
| rs547230159 | 1:27,023,062 | G/A | — | benign |
| rs2124740577 | 1:27,023,069 | G/T | — | pathogenic |
| rs2124740641 | 1:27,023,079 | C/T | — | uncertain significance |
| rs1367702736 | 1:27,023,081 | G/T | — | uncertain significance |
| rs1485116848 | 1:27,023,084 | G/A | — | uncertain significance |
| rs1429977258 | 1:27,023,087 | C/G | — | conflicting classifications of pathogenicity |
| rs1368162353 | 1:27,023,088 | C/T | — | uncertain significance |
| rs962566886 | 1:27,023,090 | C/T | — | benign |
| rs2080256530 | 1:27,023,091 | C/G | — | uncertain significance |
| rs2124740705 | 1:27,023,094 | A/G | — | uncertain significance |
| rs1025638460 | 1:27,023,096 | C/T | — | uncertain significance |
| rs2124740723 | 1:27,023,097 | C/T | — | uncertain significance |
| rs984346923 | 1:27,023,101 | G/A | — | likely benign |
| rs1272836153 | 1:27,023,103 | G/T | — | uncertain significance |
| rs1341528830 | 1:27,023,107 | G/T | — | uncertain significance |
| rs1186510839 | 1:27,023,113 | G/A | — | likely benign |
| rs2080256970 | 1:27,023,115 | A/C | — | uncertain significance |
| rs1553145891 | 1:27,023,133 | A/G | — | conflicting classifications of pathogenicity |
| rs1285265984 | 1:27,023,136 | G/A | — | uncertain significance |
| rs922383490 | 1:27,023,155 | A/C | — | likely benign |
| rs765913797 | 1:27,023,158 | C/T | — | likely benign |
| rs752026201 | 1:27,023,162 | A/G | — | likely benign |
| rs2124741075 | 1:27,023,163 | G/C | — | uncertain significance |
| rs1380239964 | 1:27,023,164 | C/A | — | uncertain significance |
| rs2124741098 | 1:27,023,169 | G/A | — | uncertain significance |
| rs1454699781 | 1:27,023,171 | G/C | — | benign |
| rs1314991058 | 1:27,023,175 | C/T | — | conflicting classifications of pathogenicity |
| rs1365565405 | 1:27,023,178 | G/A | — | benign |
| rs2080258690 | 1:27,023,183 | G/A | — | uncertain significance |
| rs866135587 | 1:27,023,186 | C/T | — | uncertain significance |
| rs1329727602 | 1:27,023,188 | G/T | — | likely benign |
| rs2080258847 | 1:27,023,191 | C/T | — | likely benign |
| rs1570538685 | 1:27,023,193 | T/C | — | likely benign |
| rs2080259083 | 1:27,023,206 | C/A | — | uncertain significance |
| rs753205954 | 1:27,023,211 | A/G | — | conflicting classifications of pathogenicity |
| rs551186176 | 1:27,023,212 | C/T | — | likely benign |
| rs2124741316 | 1:27,023,213 | G/A | — | uncertain significance |
| rs1473846356 | 1:27,023,214 | C/T | — | uncertain significance |
| rs1396175007 | 1:27,023,215 | G/A | — | likely benign |
| rs2080259457 | 1:27,023,216 | G/A | — | uncertain significance |
| rs2525554676 | 1:27,023,217 | G/A | — | uncertain significance |
| rs1044003329 | 1:27,023,218 | C/T | — | benign |
| rs1406378335 | 1:27,023,219 | C/T | — | conflicting classifications of pathogenicity |
| rs1167372383 | 1:27,023,220 | C/T | — | conflicting classifications of pathogenicity |
| rs1444337339 | 1:27,023,222 | A/G | — | uncertain significance |
| rs1308190252 | 1:27,023,225 | C/G | — | benign |
| rs1308658460 | 1:27,023,228 | G/A | — | uncertain significance |
| rs1570538824 | 1:27,023,243 | C/T | — | benign |
| rs1346716044 | 1:27,023,247 | C/T | — | conflicting classifications of pathogenicity |
| rs757540852 | 1:27,023,251 | G/A | — | likely benign |
| rs571264557 | 1:27,023,252 | C/T | — | conflicting classifications of pathogenicity |
| rs1014331186 | 1:27,023,253 | C/T | — | conflicting classifications of pathogenicity |
| rs1025670990 | 1:27,023,254 | G/A | — | benign |
| rs1469943078 | 1:27,023,255 | C/T | — | uncertain significance |
| rs1197148923 | 1:27,023,257 | C/T | — | benign |
| rs1238023708 | 1:27,023,258 | G/A | — | uncertain significance |
| rs1412101191 | 1:27,023,259 | G/T | — | conflicting classifications of pathogenicity |
| rs368937545 | 1:27,023,260 | C/T | — | likely benign |
| rs1427968958 | 1:27,023,263 | C/T | — | likely benign |
| rs1005812119 | 1:27,023,266 | C/T | — | likely benign |
Showing 100 of 1,107 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.