SOAT1
sterol O-acyltransferase 1
Summary
The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2247061 | 1:179,269,079 | G/A | intron variant | — |
| rs775151088 | 1:179,271,837 | G/T | — | uncertain significance |
| rs763188425 | 1:179,271,844 | C/G | — | uncertain significance |
| rs2527669409 | 1:179,271,904 | C/T | — | uncertain significance |
| rs144539757 | 1:179,271,916 | T/A | — | uncertain significance |
| rs150412161 | 1:179,271,924 | G/A | — | likely benign |
| rs2250477 | 1:179,274,897 | G/C | regulatory region variant | — |
| rs7523431 | 1:179,278,005 | A/C | — | — |
| rs4652364 | 1:179,283,843 | C/G | — | — |
| rs2484446 | 1:179,290,195 | C/T | intron variant | — |
| rs556936119 | 1:179,292,608 | T/C | — | uncertain significance |
| rs143587681 | 1:179,293,438 | A/G | intron variant | — |
| rs61824368 | 1:179,298,809 | C/T | intron variant | — |
| rs2124983057 | 1:179,304,774 | A/G | — | uncertain significance |
| rs1178872422 | 1:179,306,994 | C/A | — | uncertain significance |
| rs760443408 | 1:179,308,662 | A/G | — | uncertain significance |
| rs370264806 | 1:179,310,215 | G/A | — | uncertain significance |
| rs376626862 | 1:179,310,221 | T/G | — | uncertain significance |
| rs75102484 | 1:179,310,244 | G/A | — | benign |
| rs201433682 | 1:179,310,246 | C/G | — | uncertain significance |
| rs11576517 | 1:179,310,262 | C/G | synonymous variant | — |
| rs73048613 | 1:179,310,275 | C/G | — | benign |
| rs78218236 | 1:179,310,313 | G/A | — | benign |
| rs200854667 | 1:179,310,320 | C/T | — | uncertain significance |
| rs1666358907 | 1:179,311,262 | T/C | — | uncertain significance |
| rs750093837 | 1:179,311,304 | T/C | — | uncertain significance |
| rs144255785 | 1:179,311,323 | A/G | — | benign |
| rs143353203 | 1:179,311,325 | C/T | — | uncertain significance |
| rs1470875189 | 1:179,312,014 | A/G | — | uncertain significance |
| rs13306728 | 1:179,312,559 | A/G | intron variant | — |
| rs376707148 | 1:179,312,756 | A/G | — | uncertain significance |
| rs2527810482 | 1:179,314,123 | G/C | — | uncertain significance |
| rs2527821870 | 1:179,316,741 | T/C | — | uncertain significance |
| rs2527822221 | 1:179,316,798 | A/T | — | uncertain significance |
| rs2527826430 | 1:179,318,012 | T/G | — | uncertain significance |
| rs371679360 | 1:179,319,482 | T/C | — | uncertain significance |
| rs149189812 | 1:179,319,488 | G/A | — | uncertain significance |
| rs3753526 | 1:179,319,541 | C/G | synonymous variant | — |
| rs13306731 | 1:179,320,578 | A/G | missense variant | — |
| rs151112343 | 1:179,322,763 | G/A | — | uncertain significance |
| rs771185453 | 1:179,322,768 | G/A | — | uncertain significance |
| rs1044925 | 1:179,323,738 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.