APOL3
apolipoprotein L3
Summary
This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 22. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs764737986 | 22:36,537,262 | A/G | — | uncertain significance |
| rs774322767 | 22:36,537,273 | C/T | — | likely benign |
| rs371643988 | 22:36,537,328 | G/A | — | uncertain significance |
| rs765336780 | 22:36,537,445 | G/A | — | uncertain significance |
| rs535266188 | 22:36,537,466 | G/A | — | uncertain significance |
| rs1464652896 | 22:36,537,479 | A/C | — | uncertain significance |
| rs372981691 | 22:36,537,537 | A/G | — | uncertain significance |
| rs757180712 | 22:36,537,570 | C/T | — | uncertain significance |
| rs201658679 | 22:36,537,585 | A/G | — | uncertain significance |
| rs1412520956 | 22:36,537,640 | T/A | — | uncertain significance |
| rs200732493 | 22:36,537,645 | C/T | — | likely benign |
| rs2059996347 | 22:36,537,723 | G/A | — | uncertain significance |
| rs201343898 | 22:36,537,771 | G/A | — | uncertain significance |
| rs142057520 | 22:36,537,775 | C/T | — | benign |
| rs2527564945 | 22:36,537,780 | A/G | — | uncertain significance |
| rs779016894 | 22:36,537,783 | C/T | — | uncertain significance |
| rs116147257 | 22:36,537,798 | G/A | — | benign |
| rs145617479 | 22:36,537,812 | C/T | — | likely benign |
| rs2527566779 | 22:36,537,843 | C/A | — | uncertain significance |
| rs1422029484 | 22:36,537,937 | C/T | — | uncertain significance |
| rs6000152 | 22:36,538,053 | G/A | — | benign |
| rs368969357 | 22:36,538,062 | G/A | — | uncertain significance |
| rs1368496459 | 22:36,538,105 | C/G | — | uncertain significance |
| rs80575 | 22:36,539,754 | G/A | — | — |
| rs201432134 | 22:36,541,567 | T/C | — | benign |
| rs766463347 | 22:36,541,617 | T/C | — | uncertain significance |
| rs2527624003 | 22:36,541,632 | G/A | — | uncertain significance |
| rs79419411 | 22:36,556,729 | T/C | — | benign |
| rs2517791196 | 22:36,556,741 | G/A | — | uncertain significance |
| rs148885226 | 22:36,556,836 | C/A | — | likely benign |
| rs1237150510 | 22:36,556,839 | T/G | — | uncertain significance |
| rs145828103 | 22:36,556,874 | G/A | — | benign |
| rs1330800838 | 22:36,556,881 | C/T | — | uncertain significance |
| rs746890141 | 22:36,556,888 | T/C | — | uncertain significance |
| rs141120101 | 22:36,556,901 | A/C | — | likely benign |
| rs762633933 | 22:36,556,909 | C/T | — | uncertain significance |
| rs2146909339 | 22:36,556,923 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.