SERPINA5
serpin family A member 5
Summary
The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs151125315 | 14:95,048,807 | G/C | regulatory region variant | — |
| rs58477040 | 14:95,049,667 | A/G | intron variant | — |
| rs540083534 | 14:95,051,019 | C/T | — | — |
| rs562594081 | 14:95,052,196 | T/G | — | — |
| rs2069974 | 14:95,053,572 | G/A | upstream gene variant | — |
| rs373776543 | 14:95,053,761 | G/A | — | uncertain significance |
| rs147082271 | 14:95,053,772 | C/T | — | uncertain significance |
| rs537147547 | 14:95,053,808 | G/A | — | uncertain significance |
| rs1322323754 | 14:95,053,854 | T/C | — | uncertain significance |
| rs766815076 | 14:95,053,857 | A/T | — | uncertain significance |
| rs372991959 | 14:95,053,884 | G/A | — | uncertain significance |
| rs6115 | 14:95,053,890 | G/A | missense variant | — |
| rs779862543 | 14:95,053,964 | A/T | — | uncertain significance |
| rs765630990 | 14:95,053,993 | C/A | — | uncertain significance |
| rs1339516983 | 14:95,054,030 | T/A | — | uncertain significance |
| rs778905587 | 14:95,054,042 | C/A | — | uncertain significance |
| rs61761873 | 14:95,054,087 | G/A | missense variant | — |
| rs2503692401 | 14:95,054,100 | T/A | — | uncertain significance |
| rs752482577 | 14:95,054,105 | G/A | — | uncertain significance |
| rs1379490309 | 14:95,054,138 | A/G | — | uncertain significance |
| rs6112 | 14:95,054,176 | T/A | synonymous variant | — |
| rs141645745 | 14:95,054,181 | A/T | — | uncertain significance |
| rs143039920 | 14:95,056,278 | C/T | upstream gene variant | — |
| rs772920719 | 14:95,056,380 | A/G | — | uncertain significance |
| rs2503698164 | 14:95,056,393 | G/A | — | uncertain significance |
| rs6114 | 14:95,056,407 | G/C | — | benign |
| rs1263664719 | 14:95,056,410 | A/T | — | uncertain significance |
| rs140138746 | 14:95,056,440 | G/C | — | likely benign |
| rs370246072 | 14:95,056,444 | C/T | — | uncertain significance |
| rs756128742 | 14:95,056,450 | T/C | — | uncertain significance |
| rs201869477 | 14:95,056,500 | C/G | — | uncertain significance |
| rs995939166 | 14:95,056,505 | C/A | — | uncertain significance |
| rs1200219965 | 14:95,057,087 | C/A | — | uncertain significance |
| rs140870466 | 14:95,057,127 | C/T | — | uncertain significance |
| rs61761874 | 14:95,057,144 | G/A | — | likely benign |
| rs764997433 | 14:95,057,150 | C/T | — | uncertain significance |
| rs149686841 | 14:95,057,197 | C/T | — | benign |
| rs3177818 | 14:95,057,198 | G/A | — | uncertain significance |
| rs533259053 | 14:95,058,430 | G/A | — | uncertain significance |
| rs772723912 | 14:95,058,510 | C/A | — | uncertain significance |
| rs149214810 | 14:95,058,529 | A/G | — | uncertain significance |
| rs958448647 | 14:95,058,547 | C/T | — | uncertain significance |
| rs1350058107 | 14:95,058,559 | A/G | — | uncertain significance |
| rs146212021 | 14:95,058,568 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.