SOAT2
sterol O-acyltransferase 2
Summary
Summary:This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. The cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The enzyme is implicated in cholesterol absorption in the intestine and in the assembly and secretion of apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]
Known Variants61 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs988806029 | 12:53,497,374 | G/A | — | uncertain significance |
| rs9658625 | 12:53,497,402 | A/G | missense variant | — |
| rs2539696906 | 12:53,497,410 | G/A | — | likely benign |
| rs899171644 | 12:53,497,434 | T/C | — | uncertain significance |
| rs1308804464 | 12:53,497,438 | G/A | — | uncertain significance |
| rs369175658 | 12:53,497,959 | C/T | — | uncertain significance |
| rs200266354 | 12:53,497,989 | A/C | — | uncertain significance |
| rs753091495 | 12:53,498,919 | C/T | — | likely benign |
| rs1937911391 | 12:53,498,925 | G/C | — | uncertain significance |
| rs375988420 | 12:53,498,949 | G/A | — | likely benign |
| rs12317169 | 12:53,498,953 | C/T | — | benign |
| rs1011598612 | 12:53,498,970 | A/C | — | uncertain significance |
| rs145607014 | 12:53,499,350 | A/T | — | uncertain significance |
| rs2272302 | 12:53,499,487 | C/A | — | — |
| rs2272303 | 12:53,499,505 | A/G | downstream gene variant | — |
| rs11170413 | 12:53,499,534 | A/G | downstream gene variant | — |
| rs563196731 | 12:53,499,704 | G/A | — | uncertain significance |
| rs757094894 | 12:53,499,716 | C/T | — | uncertain significance |
| rs961805403 | 12:53,499,719 | A/G | — | uncertain significance |
| rs7308602 | 12:53,500,016 | G/A | downstream gene variant | — |
| rs10876406 | 12:53,501,437 | T/C | intron variant | — |
| rs10876407 | 12:53,502,438 | T/A | intron variant | — |
| rs12578427 | 12:53,502,849 | C/T | intron variant | — |
| rs11170420 | 12:53,504,257 | C/A | — | — |
| rs28883710 | 12:53,506,096 | T/A | — | — |
| rs11170421 | 12:53,506,365 | A/C | — | — |
| rs11170423 | 12:53,507,213 | G/A | intron variant | — |
| rs12309006 | 12:53,507,365 | A/C | intron variant | — |
| rs370999764 | 12:53,509,184 | G/A | — | uncertain significance |
| rs146585762 | 12:53,509,211 | G/C | — | uncertain significance |
| rs750777029 | 12:53,509,287 | G/A | — | uncertain significance |
| rs150397865 | 12:53,509,320 | C/T | — | uncertain significance |
| rs3219199 | 12:53,509,339 | G/T | synonymous variant | — |
| rs3219200 | 12:53,509,340 | C/T | synonymous variant | — |
| rs144833101 | 12:53,509,343 | G/C | — | uncertain significance |
| rs754396317 | 12:53,509,350 | A/G | — | uncertain significance |
| rs199822238 | 12:53,509,362 | T/A | — | uncertain significance |
| rs746802587 | 12:53,509,370 | C/G | — | uncertain significance |
| rs3817536 | 12:53,509,693 | T/C | regulatory region variant | — |
| rs763317202 | 12:53,509,938 | C/T | — | likely benign |
| rs6580931 | 12:53,510,274 | A/C | — | — |
| rs12228145 | 12:53,510,852 | C/G | — | — |
| rs3892410 | 12:53,511,267 | C/T | intron variant | — |
| rs141651111 | 12:53,512,134 | G/T | — | uncertain significance |
| rs999250134 | 12:53,512,715 | C/G | — | uncertain significance |
| rs2280696 | 12:53,512,756 | A/T | intron variant | — |
| rs377508025 | 12:53,512,974 | A/G | — | uncertain significance |
| rs760227515 | 12:53,513,001 | G/A | — | uncertain significance |
| rs536694188 | 12:53,513,029 | C/T | — | uncertain significance |
| rs145778097 | 12:53,514,600 | C/A | — | uncertain significance |
| rs1350329583 | 12:53,514,609 | A/G | — | uncertain significance |
| rs151036777 | 12:53,514,634 | G/T | — | uncertain significance |
| rs775425621 | 12:53,515,103 | C/T | — | uncertain significance |
| rs2539722215 | 12:53,515,132 | A/G | — | uncertain significance |
| rs36020119 | 12:53,515,155 | G/C | — | benign |
| rs149485045 | 12:53,516,878 | G/A | — | benign |
| rs201335480 | 12:53,516,948 | C/A | — | uncertain significance |
| rs377423236 | 12:53,517,547 | G/A | — | uncertain significance |
| rs141004772 | 12:53,517,554 | C/T | — | uncertain significance |
| rs144863336 | 12:53,517,562 | G/A | — | uncertain significance |
| rs548654659 | 12:53,517,635 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.