APOC3
apolipoprotein C3
Summary
This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11. [provided by RefSeq, Sep 2017]
Known Variants64 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2542052 | 11:116,699,984 | A/C | regulatory region variant | — |
| rs2854117 | 11:116,700,142 | T/A | — | — |
| rs2854116 | 11:116,700,169 | C/T | regulatory region variant | — |
| rs2070669 | 11:116,701,122 | G/C | — | benign |
| rs2070668 | 11:116,701,153 | G/T | — | benign |
| rs188386444 | 11:116,701,203 | C/T | — | likely benign |
| rs192830070 | 11:116,701,204 | C/T | — | likely benign |
| rs5143 | 11:116,701,216 | G/A | — | benign |
| rs12721095 | 11:116,701,224 | C/T | — | benign |
| rs754247562 | 11:116,701,308 | C/T | — | uncertain significance |
| rs745897503 | 11:116,701,310 | G/A | — | likely benign |
| rs1233723737 | 11:116,701,311 | G/A | — | uncertain significance |
| rs762766868 | 11:116,701,337 | G/A | — | likely benign |
| rs571476926 | 11:116,701,338 | C/T | — | uncertain significance |
| rs774247573 | 11:116,701,346 | C/T | — | likely benign |
| rs76353203 | 11:116,701,353 | C/T | stop gained | pathogenic |
| rs138326449 | 11:116,701,354 | G/A | splice region variant | pathogenic |
| rs12721093 | 11:116,701,416 | A/G | — | likely benign |
| rs755061758 | 11:116,701,474 | C/A | — | likely benign |
| rs1204077086 | 11:116,701,499 | G/A | — | likely benign |
| rs372158089 | 11:116,701,502 | C/T | — | likely benign |
| rs963060587 | 11:116,701,503 | G/A | — | uncertain significance |
| rs2540277937 | 11:116,701,510 | C/T | — | uncertain significance |
| rs2134224794 | 11:116,701,518 | C/T | — | uncertain significance |
| rs1025708722 | 11:116,701,524 | T/G | — | uncertain significance |
| rs1288391287 | 11:116,701,528 | T/A | — | uncertain significance |
| rs200557528 | 11:116,701,532 | G/A | — | likely benign |
| rs1435306047 | 11:116,701,533 | G/T | — | uncertain significance |
| rs4520 | 11:116,701,535 | T/C | synonymous variant | benign |
| rs369731620 | 11:116,701,547 | C/T | — | likely benign |
| rs764996088 | 11:116,701,548 | G/A | — | uncertain significance |
| rs773670132 | 11:116,701,549 | C/A | — | conflicting classifications of pathogenicity |
| rs942960138 | 11:116,701,551 | A/G | — | uncertain significance |
| rs533891893 | 11:116,701,559 | C/T | — | likely benign |
| rs147210663 | 11:116,701,560 | G/A | missense variant | pathogenic |
| rs201803883 | 11:116,701,581 | G/A | — | uncertain significance |
| rs2540278115 | 11:116,701,594 | A/G | — | uncertain significance |
| rs2540278122 | 11:116,701,604 | G/C | — | uncertain significance |
| rs1591326474 | 11:116,701,605 | C/A | — | uncertain significance |
| rs1941439349 | 11:116,701,608 | G/T | — | uncertain significance |
| rs140621530 | 11:116,701,613 | G/T | splice region variant | pathogenic |
| rs1217412136 | 11:116,701,625 | G/T | — | likely benign |
| rs2070667 | 11:116,701,669 | G/A | — | benign |
| rs2070666 | 11:116,701,674 | T/A | — | benign |
| rs1269330 | 11:116,701,833 | G/A | — | benign |
| rs5142 | 11:116,701,850 | C/T | — | benign |
| rs12721099 | 11:116,701,898 | T/C | downstream gene variant | — |
| rs200501619 | 11:116,701,999 | C/A | — | — |
| rs5141 | 11:116,702,123 | T/C | downstream gene variant | — |
| rs645901 | 11:116,702,362 | T/A | — | — |
| rs12721084 | 11:116,703,398 | G/A | — | benign |
| rs5129 | 11:116,703,464 | C/T | — | likely benign |
| rs1179268663 | 11:116,703,492 | C/T | — | likely benign |
| rs149707394 | 11:116,703,493 | G/A | — | uncertain significance |
| rs121918382 | 11:116,703,532 | A/G | missense variant | pathogenic |
| rs1293892400 | 11:116,703,540 | G/A | — | likely benign |
| rs2540281884 | 11:116,703,553 | T/C | — | uncertain significance |
| rs764157867 | 11:116,703,571 | G/A | — | uncertain significance |
| rs121918381 | 11:116,703,580 | A/G | missense variant | pathogenic |
| rs199963291 | 11:116,703,582 | T/C | — | likely benign |
| rs144573427 | 11:116,703,588 | C/A | — | likely benign |
| rs5128 | 11:116,703,640 | G/C | downstream gene variant | uncertain significance |
| rs4225 | 11:116,703,671 | T/G | — | benign |
| rs11540884 | 11:116,703,749 | T/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.