APOH
apolipoprotein H
Summary
Apolipoprotein H, also known as beta-2-glycoprotein I, is a component of circulating plasma lipoproteins. It has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, hemostasis, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome (APS). The anti-beta (2) glycoprotein I antibodies from APS patients, mediate inhibition of activated protein C which has anticoagulant properties. Because beta-2-GPI is the main autoantigen in patients with APS, the disruption of this pathway by autoantibodies may be an important mechanism for thrombosis in patients with APS.[provided by RefSeq, Dec 2019]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs780277635 | 17:64,208,291 | G/A | — | uncertain significance |
| rs1801689 | 17:64,210,580 | A/G | missense variant | — |
| rs765836638 | 17:64,210,633 | C/T | — | uncertain significance |
| rs764352041 | 17:64,210,695 | A/C | — | uncertain significance |
| rs781098935 | 17:64,210,748 | T/C | — | uncertain significance |
| rs4581 | 17:64,210,757 | C/A | — | benign |
| rs1228626247 | 17:64,210,762 | C/A | — | uncertain significance |
| rs2511973517 | 17:64,213,038 | A/G | — | uncertain significance |
| rs8178854 | 17:64,214,270 | A/T | — | — |
| rs7212477 | 17:64,215,845 | A/G | intron variant | — |
| rs759640469 | 17:64,216,692 | G/A | — | uncertain significance |
| rs767671022 | 17:64,216,694 | C/G | — | uncertain significance |
| rs371321855 | 17:64,216,732 | C/T | — | uncertain significance |
| rs1286340183 | 17:64,216,768 | C/T | — | uncertain significance |
| rs114459902 | 17:64,216,797 | G/T | — | benign |
| rs8178925 | 17:64,216,799 | T/C | — | benign |
| rs2073392343 | 17:64,216,809 | T/C | — | uncertain significance |
| rs8178847 | 17:64,216,815 | C/T | — | benign |
| rs75037199 | 17:64,217,535 | A/G | — | — |
| rs8178843 | 17:64,218,607 | C/G | — | — |
| rs2302377 | 17:64,219,835 | C/T | — | benign |
| rs1267030670 | 17:64,219,857 | G/A | — | uncertain significance |
| rs189980938 | 17:64,219,876 | C/T | — | likely benign |
| rs118088174 | 17:64,221,453 | C/T | intron variant | — |
| rs143448405 | 17:64,222,136 | A/C | — | benign |
| rs373470263 | 17:64,222,170 | G/T | — | uncertain significance |
| rs2511980794 | 17:64,222,227 | A/G | — | uncertain significance |
| rs373786395 | 17:64,222,242 | G/T | — | uncertain significance |
| rs117508278 | 17:64,223,169 | T/C | intron variant | — |
| rs16958979 | 17:64,223,859 | C/T | intron variant | — |
| rs138225887 | 17:64,224,155 | T/C | — | benign |
| rs55772214 | 17:64,224,220 | C/A | — | benign |
| rs1350176353 | 17:64,224,257 | T/C | — | uncertain significance |
| rs398124629 | 17:64,224,267 | T/C | missense variant | pathogenic |
| rs666 | 17:64,224,271 | C/T | synonymous variant | — |
| rs8178824 | 17:64,224,775 | C/T | intron variant | — |
| rs8178901 | 17:64,225,426 | G/A | — | benign |
| rs11867410 | 17:64,227,363 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.