RARB
retinoic acid receptor beta
Summary
This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014]
Known Variants122 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2362775 | 3:24,924,421 | T/C | intron variant | — |
| rs115463265 | 3:24,925,070 | C/T | intron variant | — |
| rs7614721 | 3:24,981,533 | G/A | intron variant | — |
| rs6799487 | 3:24,998,500 | T/C | — | — |
| rs4410417 | 3:25,038,558 | A/C | intron variant | — |
| rs12490228 | 3:25,046,463 | C/T | intron variant | — |
| rs4482636 | 3:25,053,043 | C/T | intron variant | — |
| rs12715065 | 3:25,105,288 | T/C | — | — |
| rs993804 | 3:25,112,171 | C/T | intron variant | — |
| rs7429279 | 3:25,118,637 | A/C | intron variant | — |
| rs1909527 | 3:25,155,624 | G/A | intron variant | — |
| rs11129182 | 3:25,171,297 | T/G | — | — |
| rs9840225 | 3:25,181,030 | G/A | intron variant | — |
| rs7645872 | 3:25,209,801 | C/T | intron variant | — |
| rs759370316 | 3:25,216,018 | C/G | — | uncertain significance |
| rs554798782 | 3:25,249,646 | A/C | — | — |
| rs562944778 | 3:25,294,604 | G/T | — | — |
| rs74529211 | 3:25,318,339 | A/C | intron variant | — |
| rs1656878 | 3:25,336,240 | T/A | — | — |
| rs322668 | 3:25,343,615 | G/T | — | — |
| rs6550965 | 3:25,383,587 | C/A | intron variant | — |
| rs11712065 | 3:25,393,860 | A/G | coding sequence variant | — |
| rs61694119 | 3:25,395,695 | C/T | regulatory region variant | — |
| rs7653107 | 3:25,430,069 | G/C | — | — |
| rs12630816 | 3:25,467,748 | C/T | upstream gene variant | — |
| rs1057524213 | 3:25,470,370 | A/G | — | uncertain significance |
| rs78541681 | 3:25,470,586 | C/T | — | benign |
| rs1381205738 | 3:25,472,274 | G/A | — | uncertain significance |
| rs6776706 | 3:25,481,222 | T/C | — | — |
| rs576675477 | 3:25,483,505 | A/T | — | — |
| rs6799734 | 3:25,485,811 | G/A | — | — |
| rs74820342 | 3:25,502,496 | C/T | — | benign |
| rs374770716 | 3:25,502,669 | C/A | — | likely benign |
| rs78470280 | 3:25,502,675 | C/G | — | benign |
| rs182336010 | 3:25,502,677 | A/G | — | likely benign |
| rs2529292219 | 3:25,502,683 | G/A | — | uncertain significance |
| rs138754945 | 3:25,502,757 | G/C | — | likely benign |
| rs201295268 | 3:25,502,790 | A/T | — | conflicting classifications of pathogenicity |
| rs2529292755 | 3:25,502,795 | G/A | — | uncertain significance |
| rs116825683 | 3:25,502,796 | G/A | — | benign |
| rs138872395 | 3:25,502,814 | C/T | — | likely benign |
| rs1695170324 | 3:25,502,839 | A/G | — | likely benign |
| rs77748152 | 3:25,502,851 | G/A | — | benign |
| rs2067964 | 3:25,502,869 | T/G | intron variant | benign |
| rs17016462 | 3:25,516,116 | A/T | intron variant | — |
| rs1529672 | 3:25,520,582 | C/G | — | — |
| rs2568878 | 3:25,535,771 | T/A | — | — |
| rs1997352 | 3:25,538,317 | C/T | — | — |
| rs2116703 | 3:25,542,571 | G/A | — | benign |
| rs7623934 | 3:25,542,588 | A/G | — | benign |
| rs2529457082 | 3:25,542,673 | G/T | — | likely pathogenic |
| rs397518481 | 3:25,542,721 | C/T | stop gained | pathogenic |
| rs1292531557 | 3:25,542,722 | G/A | — | uncertain significance |
| rs1553624279 | 3:25,542,775 | C/T | — | uncertain significance |
| rs1387195672 | 3:25,542,776 | G/A | — | uncertain significance |
| rs112385750 | 3:25,546,310 | G/A | intron variant | — |
| rs1435703 | 3:25,560,231 | G/T | intron variant | — |
| rs113313452 | 3:25,573,813 | G/T | intron variant | — |
| rs4081949 | 3:25,611,152 | A/G | — | benign |
| rs1044203022 | 3:25,611,345 | A/G | — | uncertain significance |
| rs2529728511 | 3:25,611,402 | A/G | — | uncertain significance |
| rs2529761160 | 3:25,622,061 | C/T | — | uncertain significance |
| rs869025222 | 3:25,622,065 | T/C | missense variant | pathogenic |
| rs761994018 | 3:25,622,071 | T/C | — | uncertain significance |
| rs373578752 | 3:25,622,073 | G/A | — | uncertain significance |
| rs2529761251 | 3:25,622,081 | G/C | — | pathogenic |
| rs2529761318 | 3:25,622,101 | C/T | — | uncertain significance |
| rs2529761349 | 3:25,622,110 | G/T | — | uncertain significance |
| rs755865469 | 3:25,622,123 | C/T | — | likely benign |
| rs1270694007 | 3:25,622,129 | G/C | — | uncertain significance |
| rs1248468594 | 3:25,622,164 | C/G | — | uncertain significance |
| rs139584096 | 3:25,622,168 | C/T | — | likely benign |
| rs773216330 | 3:25,622,169 | G/T | — | uncertain significance |
| rs2529761773 | 3:25,622,176 | A/G | — | likely pathogenic |
| rs115482149 | 3:25,622,195 | C/T | — | likely benign |
| rs188860314 | 3:25,634,976 | A/G | — | likely benign |
| rs780963962 | 3:25,634,986 | C/T | — | likely benign |
| rs1701696076 | 3:25,635,013 | G/C | — | uncertain significance |
| rs1701696937 | 3:25,635,042 | T/G | — | likely pathogenic |
| rs1701697098 | 3:25,635,043 | T/C | — | conflicting classifications of pathogenicity |
| rs1701697256 | 3:25,635,048 | G/T | — | uncertain significance |
| rs1553637463 | 3:25,635,051 | G/A | — | pathogenic |
| rs2529811664 | 3:25,635,052 | G/T | — | uncertain significance |
| rs1559483735 | 3:25,635,054 | C/G | — | uncertain significance |
| rs2529811682 | 3:25,635,055 | T/C | — | uncertain significance |
| rs1575550287 | 3:25,635,058 | C/T | — | uncertain significance |
| rs2125325427 | 3:25,635,061 | T/C | — | uncertain significance |
| rs1553637470 | 3:25,635,079 | A/T | — | likely pathogenic |
| rs2529811812 | 3:25,635,087 | G/A | — | uncertain significance |
| rs2125325458 | 3:25,635,088 | G/T | — | likely pathogenic |
| rs869025221 | 3:25,635,094 | G/C | missense variant | pathogenic |
| rs146757345 | 3:25,635,127 | A/C | — | benign |
| rs775637491 | 3:25,635,167 | C/A | — | benign |
| rs1436425031 | 3:25,635,168 | C/A | — | uncertain significance |
| rs2529812334 | 3:25,635,193 | G/A | — | uncertain significance |
| rs772873447 | 3:25,635,208 | A/G | — | likely benign |
| rs200539714 | 3:25,635,209 | T/C | — | benign |
| rs57466864 | 3:25,635,913 | A/C | — | benign |
| rs760433691 | 3:25,636,057 | A/G | — | likely benign |
| rs1351277479 | 3:25,636,061 | T/C | — | likely benign |
Showing 100 of 122 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.