SIRT3
sirtuin 3
Summary
SIRT3 encodes a member of the sirtuin family of class III histone deacetylases, homologs to the yeast Sir2 protein. The encoded protein is found exclusively in mitochondria, where it can eliminate reactive oxygen species, inhibit apoptosis, and prevent the formation of cancer cells. SIRT3 has far-reaching effects on nuclear gene expression, cancer, cardiovascular disease, neuroprotection, aging, and metabolic control. [provided by RefSeq, May 2019]
Known Variants64 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12226402 | 11:215,904 | G/A | downstream gene variant | — |
| rs12226697 | 11:216,056 | G/A | downstream gene variant | — |
| rs2538928814 | 11:218,857 | T/A | — | uncertain significance |
| rs181924090 | 11:218,874 | C/G | missense variant | — |
| rs146003473 | 11:218,903 | C/T | — | uncertain significance |
| rs74477499 | 11:218,907 | G/A | — | benign |
| rs758962158 | 11:218,945 | G/A | — | uncertain significance |
| rs762570417 | 11:219,017 | C/T | — | uncertain significance |
| rs511744 | 11:219,089 | T/C | downstream gene variant | — |
| rs4758633 | 11:219,538 | A/C | — | — |
| rs570204 | 11:221,195 | T/C | regulatory region variant | — |
| rs3782118 | 11:222,620 | T/C | intron variant | — |
| rs3782116 | 11:223,119 | T/C | intron variant | — |
| rs3782115 | 11:223,272 | A/G | intron variant | — |
| rs12222188 | 11:224,063 | G/T | — | — |
| rs1010377667 | 11:224,091 | C/A | — | uncertain significance |
| rs200605181 | 11:224,101 | G/A | — | uncertain significance |
| rs2538967805 | 11:224,158 | G/A | — | uncertain significance |
| rs201289946 | 11:224,179 | C/T | — | uncertain significance |
| rs147722093 | 11:224,194 | C/T | — | likely benign |
| rs12223279 | 11:224,204 | C/T | — | benign |
| rs143392832 | 11:224,219 | C/G | — | uncertain significance |
| rs73392700 | 11:224,845 | G/C | intron variant | — |
| rs507139 | 11:225,196 | G/A | intron variant | — |
| rs192052461 | 11:225,518 | A/G | intron variant | — |
| rs12419995 | 11:226,757 | A/T | — | — |
| rs75548573 | 11:228,077 | C/T | intron variant | — |
| rs117629395 | 11:229,439 | C/T | intron variant | — |
| rs7104764 | 11:229,977 | G/C | — | — |
| rs536715 | 11:230,368 | C/T | intron variant | — |
| rs199663456 | 11:230,453 | C/T | — | uncertain significance |
| rs61748606 | 11:230,474 | G/T | — | benign |
| rs371590252 | 11:230,549 | G/A | — | uncertain significance |
| rs11602248 | 11:231,305 | G/T | — | — |
| rs492715 | 11:232,491 | G/T | upstream gene variant | — |
| rs547025 | 11:232,855 | T/C | upstream gene variant | — |
| rs752478762 | 11:232,998 | C/T | — | uncertain significance |
| rs200084876 | 11:233,024 | A/G | — | uncertain significance |
| rs11246020 | 11:233,067 | C/T | — | benign |
| rs200996811 | 11:233,168 | G/A | — | uncertain significance |
| rs778152263 | 11:233,201 | C/T | — | uncertain significance |
| rs987645337 | 11:233,206 | C/A | — | likely benign |
| rs200027212 | 11:233,210 | G/T | — | uncertain significance |
| rs11555236 | 11:233,212 | C/A | — | benign |
| rs140359001 | 11:233,364 | G/C | — | uncertain significance |
| rs2539037010 | 11:233,365 | G/T | — | uncertain significance |
| rs147810576 | 11:233,380 | C/A | — | uncertain significance |
| rs762043083 | 11:233,394 | A/G | — | uncertain significance |
| rs752186020 | 11:233,431 | C/T | — | uncertain significance |
| rs768749356 | 11:233,496 | C/A | — | uncertain significance |
| rs11607019 | 11:234,349 | T/C | upstream gene variant | — |
| rs4980325 | 11:234,451 | G/C | — | — |
| rs201270739 | 11:236,087 | C/T | — | uncertain significance |
| rs143632880 | 11:236,094 | A/G | — | benign |
| rs2539064349 | 11:236,099 | C/G | — | uncertain significance |
| rs1368171849 | 11:236,132 | G/C | — | uncertain significance |
| rs1326672519 | 11:236,160 | G/C | — | uncertain significance |
| rs889056482 | 11:236,170 | G/T | — | uncertain significance |
| rs1590235385 | 11:236,183 | C/A | — | uncertain significance |
| rs550597420 | 11:236,196 | C/A | — | uncertain significance |
| rs2539066832 | 11:236,240 | G/A | — | uncertain significance |
| rs201049682 | 11:236,296 | G/A | — | likely benign |
| rs1409376174 | 11:236,324 | G/A | — | uncertain significance |
| rs147924046 | 11:236,337 | C/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.