SERPINA10
serpin family A member 10
Summary
The protein encoded by this gene belongs to the serpin family. It is predominantly expressed in the liver and secreted in plasma. It inhibits the activity of coagulation factors Xa and XIa in the presence of protein Z, calcium and phospholipid. Mutations in this gene are associated with venous thrombosis. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, May 2010]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1424048020 | 14:94,750,310 | G/A | — | uncertain significance |
| rs201969429 | 14:94,750,348 | C/G | — | uncertain significance |
| rs190358836 | 14:94,750,384 | C/T | — | uncertain significance |
| rs1894961531 | 14:94,750,407 | C/T | — | uncertain significance |
| rs773811944 | 14:94,750,475 | T/C | — | uncertain significance |
| rs142013081 | 14:94,750,481 | T/C | — | likely benign |
| rs372623896 | 14:94,752,523 | C/G | — | uncertain significance |
| rs149414832 | 14:94,752,558 | G/T | — | uncertain significance |
| rs61754487 | 14:94,754,643 | C/T | stop gained | uncertain significance |
| rs779524045 | 14:94,754,645 | A/G | — | uncertain significance |
| rs765992293 | 14:94,754,719 | A/G | — | uncertain significance |
| rs199663033 | 14:94,754,725 | G/A | — | uncertain significance |
| rs746098136 | 14:94,754,782 | G/T | — | uncertain significance |
| rs780272546 | 14:94,754,855 | C/T | — | uncertain significance |
| rs12434093 | 14:94,755,184 | T/C | regulatory region variant | — |
| rs145668993 | 14:94,756,290 | C/T | — | likely benign |
| rs570402881 | 14:94,756,291 | G/A | — | uncertain significance |
| rs143232539 | 14:94,756,411 | C/T | — | uncertain significance |
| rs753625083 | 14:94,756,416 | A/G | — | uncertain significance |
| rs149890122 | 14:94,756,536 | G/A | — | uncertain significance |
| rs372663141 | 14:94,756,597 | A/C | — | uncertain significance |
| rs376636518 | 14:94,756,600 | C/G | — | uncertain significance |
| rs529472591 | 14:94,756,642 | T/G | — | uncertain significance |
| rs1282285403 | 14:94,756,657 | T/A | — | uncertain significance |
| rs143859072 | 14:94,756,668 | C/T | — | uncertain significance |
| rs2232698 | 14:94,756,669 | G/A | — | likely benign |
| rs770938821 | 14:94,756,747 | C/G | — | uncertain significance |
| rs2504617016 | 14:94,756,783 | C/G | — | uncertain significance |
| rs1311193031 | 14:94,756,789 | C/T | — | uncertain significance |
| rs776455616 | 14:94,756,899 | A/G | — | uncertain significance |
| rs759069270 | 14:94,756,900 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.