SERPINB1
serpin family B member 1
Summary
The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs15286 | 6:2,833,739 | A/T | — | — |
| rs371863079 | 6:2,834,105 | C/T | — | uncertain significance |
| rs115979952 | 6:2,834,114 | G/A | — | benign |
| rs1354667844 | 6:2,834,159 | T/C | — | uncertain significance |
| rs774303409 | 6:2,834,182 | A/G | — | uncertain significance |
| rs148153311 | 6:2,834,194 | T/G | — | uncertain significance |
| rs760156397 | 6:2,834,201 | G/A | — | uncertain significance |
| rs997623076 | 6:2,834,215 | T/C | — | likely benign |
| rs1455866058 | 6:2,836,109 | T/G | — | uncertain significance |
| rs374753274 | 6:2,836,144 | G/C | — | uncertain significance |
| rs1159114910 | 6:2,836,190 | A/T | — | uncertain significance |
| rs2532318966 | 6:2,836,194 | C/T | — | uncertain significance |
| rs764392311 | 6:2,836,216 | T/G | — | uncertain significance |
| rs385955 | 6:2,836,266 | A/T | — | benign |
| rs890454027 | 6:2,836,367 | G/A | — | uncertain significance |
| rs905205272 | 6:2,836,455 | T/C | — | likely benign |
| rs140716564 | 6:2,836,460 | G/A | — | uncertain significance |
| rs2532325154 | 6:2,838,138 | C/G | — | uncertain significance |
| rs551252424 | 6:2,838,205 | T/C | — | uncertain significance |
| rs316341 | 6:2,838,248 | G/C | — | — |
| rs114597282 | 6:2,838,820 | T/C | missense variant | — |
| rs1766561209 | 6:2,838,838 | T/C | — | uncertain significance |
| rs774107021 | 6:2,838,841 | G/A | — | uncertain significance |
| rs34825616 | 6:2,838,844 | G/A | — | benign |
| rs565171133 | 6:2,838,851 | G/A | — | uncertain significance |
| rs762224614 | 6:2,838,854 | T/C | — | uncertain significance |
| rs141303024 | 6:2,840,684 | G/A | — | uncertain significance |
| rs34249702 | 6:2,840,782 | C/T | — | benign |
| rs2532334917 | 6:2,840,793 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.