SERPINE2
serpin family E member 2
Summary
This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6754561 | 2:224,839,696 | T/A | — | — |
| rs6734100 | 2:224,841,995 | C/G | intron variant | — |
| rs729631 | 2:224,844,919 | C/G | regulatory region variant | — |
| rs975278 | 2:224,847,707 | T/A | — | — |
| rs7583463 | 2:224,849,109 | A/C | intron variant | — |
| rs186094760 | 2:224,849,482 | C/A | — | uncertain significance |
| rs6748795 | 2:224,850,723 | G/A | — | — |
| rs185869007 | 2:224,854,455 | G/A | intron variant | — |
| rs2469426964 | 2:224,856,521 | A/C | — | uncertain significance |
| rs200432767 | 2:224,856,571 | C/T | — | uncertain significance |
| rs1469604205 | 2:224,856,585 | A/G | — | uncertain significance |
| rs767199589 | 2:224,856,658 | G/A | — | uncertain significance |
| rs16865421 | 2:224,858,093 | A/G | intron variant | — |
| rs3795879 | 2:224,862,821 | C/T | regulatory region variant | — |
| rs12457 | 2:224,862,842 | A/G | synonymous variant | — |
| rs773966382 | 2:224,862,898 | C/T | — | uncertain significance |
| rs1690970362 | 2:224,862,936 | G/C | — | uncertain significance |
| rs549448679 | 2:224,862,979 | C/T | — | uncertain significance |
| rs1690975258 | 2:224,863,014 | T/C | — | uncertain significance |
| rs755518142 | 2:224,863,021 | C/T | — | uncertain significance |
| rs747597085 | 2:224,863,029 | T/C | — | uncertain significance |
| rs3795877 | 2:224,866,177 | A/G | intron variant | — |
| rs1189106460 | 2:224,866,365 | C/T | — | uncertain significance |
| rs760828083 | 2:224,866,408 | G/A | — | likely benign |
| rs1169153905 | 2:224,866,461 | T/C | — | likely benign |
| rs751041382 | 2:224,866,511 | A/G | — | uncertain significance |
| rs767005897 | 2:224,866,517 | G/A | — | uncertain significance |
| rs368896299 | 2:224,866,572 | G/A | — | uncertain significance |
| rs2118409 | 2:224,869,643 | G/A | — | — |
| rs7583799 | 2:224,871,995 | G/A | intron variant | — |
| rs7584056 | 2:224,872,383 | C/A | — | — |
| rs1866152 | 2:224,878,079 | A/C | — | — |
| rs573829890 | 2:224,884,423 | C/T | — | — |
| rs74363294 | 2:224,890,646 | G/C | regulatory region variant | — |
| rs186869820 | 2:224,897,176 | G/A | intron variant | — |
| rs840088 | 2:224,899,844 | T/A | — | — |
| rs7579646 | 2:224,900,696 | G/A | intron variant | — |
| rs863957 | 2:224,900,820 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.