TOX3
TOX high mobility group box family member 3
Summary
The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs753536775 | 16:52,473,158 | T/A | — | uncertain significance |
| rs767805399 | 16:52,473,192 | G/A | — | uncertain significance |
| rs760024219 | 16:52,473,210 | G/A | — | uncertain significance |
| rs756001275 | 16:52,473,244 | A/T | — | uncertain significance |
| rs779699137 | 16:52,473,246 | G/C | — | uncertain significance |
| rs1249328563 | 16:52,473,330 | C/T | — | likely benign |
| rs200998313 | 16:52,473,331 | G/A | — | benign |
| rs2506883098 | 16:52,473,342 | T/A | — | uncertain significance |
| rs2506883135 | 16:52,473,345 | T/A | — | uncertain significance |
| rs747270920 | 16:52,473,416 | G/T | — | uncertain significance |
| rs772527716 | 16:52,473,500 | C/G | — | uncertain significance |
| rs772796688 | 16:52,473,582 | G/A | — | uncertain significance |
| rs746103477 | 16:52,473,630 | G/T | — | uncertain significance |
| rs568242113 | 16:52,473,642 | G/A | — | uncertain significance |
| rs187946572 | 16:52,473,651 | T/C | — | uncertain significance |
| rs191245327 | 16:52,473,655 | C/T | — | uncertain significance |
| rs767588384 | 16:52,473,683 | G/T | — | uncertain significance |
| rs61743755 | 16:52,473,719 | G/A | — | benign |
| rs374364445 | 16:52,473,810 | G/A | — | uncertain significance |
| rs1241226291 | 16:52,478,256 | T/C | — | uncertain significance |
| rs184096376 | 16:52,479,976 | T/A | — | uncertain significance |
| rs1401070456 | 16:52,480,115 | C/G | — | uncertain significance |
| rs114182621 | 16:52,484,317 | C/T | — | benign |
| rs765140161 | 16:52,484,373 | C/T | — | uncertain significance |
| rs200208189 | 16:52,484,403 | C/T | — | uncertain significance |
| rs1043079985 | 16:52,484,424 | T/C | — | uncertain significance |
| rs768433075 | 16:52,497,961 | T/C | — | uncertain significance |
| rs1274810425 | 16:52,498,025 | G/A | — | uncertain significance |
| rs78593025 | 16:52,518,966 | C/T | — | — |
| rs8051542 | 16:52,534,167 | T/C | intron variant | — |
| rs7184835 | 16:52,538,337 | T/G | — | — |
| rs35668161 | 16:52,538,825 | C/T | — | — |
| rs7500427 | 16:52,545,277 | G/A | intron variant | — |
| rs12443621 | 16:52,548,037 | A/G | intron variant | — |
| rs11642645 | 16:52,558,907 | C/A | intron variant | — |
| rs4784223 | 16:52,575,907 | A/T | — | — |
| rs1420534 | 16:52,577,504 | A/G | intron variant | — |
| rs4784224 | 16:52,580,247 | C/A | regulatory region variant | — |
| rs980576855 | 16:52,580,592 | C/A | — | uncertain significance |
| rs1322731916 | 16:52,580,593 | T/C | — | likely benign |
| rs1963200922 | 16:52,580,619 | T/C | — | uncertain significance |
| rs1190470930 | 16:52,580,624 | C/G | — | uncertain significance |
| rs112149573 | 16:52,581,245 | G/T | regulatory region variant | — |
| rs4784226 | 16:52,583,143 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.