SPINT1
serine peptidase inhibitor, Kunitz type 1
Summary
The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1891215139 | 15:41,136,769 | C/G | — | uncertain significance |
| rs1891220096 | 15:41,136,822 | C/T | — | uncertain significance |
| rs751615505 | 15:41,136,862 | C/T | — | uncertain significance |
| rs201697101 | 15:41,136,876 | C/T | — | uncertain significance |
| rs11549914 | 15:41,136,885 | C/T | missense variant | — |
| rs376333579 | 15:41,136,918 | G/T | — | uncertain significance |
| rs763112135 | 15:41,136,940 | T/C | — | uncertain significance |
| rs2504775453 | 15:41,136,951 | G/T | — | uncertain significance |
| rs145578767 | 15:41,137,018 | G/A | — | uncertain significance |
| rs138089109 | 15:41,137,020 | G/A | — | uncertain significance |
| rs142567105 | 15:41,137,033 | C/T | — | uncertain significance |
| rs199965511 | 15:41,137,059 | G/A | — | uncertain significance |
| rs148755059 | 15:41,137,113 | T/A | — | uncertain significance |
| rs373492914 | 15:41,137,167 | A/G | — | uncertain significance |
| rs12323939 | 15:41,137,177 | C/T | missense variant | — |
| rs188842738 | 15:41,140,420 | A/G | upstream gene variant | — |
| rs139263716 | 15:41,145,339 | G/T | — | uncertain significance |
| rs1012211965 | 15:41,145,340 | C/T | — | uncertain significance |
| rs1171746024 | 15:41,145,415 | G/A | — | likely benign |
| rs371597596 | 15:41,145,423 | C/T | — | uncertain significance |
| rs755237849 | 15:41,145,433 | C/T | — | uncertain significance |
| rs754036462 | 15:41,145,766 | A/G | — | uncertain significance |
| rs74819355 | 15:41,145,814 | A/C | — | uncertain significance |
| rs369178359 | 15:41,145,817 | A/G | — | uncertain significance |
| rs991849848 | 15:41,145,921 | C/T | — | uncertain significance |
| rs202037909 | 15:41,145,978 | C/T | — | likely benign |
| rs151160609 | 15:41,146,001 | G/A | — | uncertain significance |
| rs774428982 | 15:41,146,071 | G/A | — | likely benign |
| rs372963829 | 15:41,146,261 | C/T | — | uncertain significance |
| rs909050116 | 15:41,146,600 | T/C | — | uncertain significance |
| rs7165897 | 15:41,146,616 | C/T | — | benign |
| rs144910384 | 15:41,146,854 | G/A | — | uncertain significance |
| rs115016208 | 15:41,146,864 | G/A | — | benign |
| rs2504809486 | 15:41,148,123 | G/T | — | uncertain significance |
| rs756821220 | 15:41,148,161 | A/G | — | uncertain significance |
| rs147386305 | 15:41,148,177 | G/A | missense variant | — |
| rs778702999 | 15:41,148,231 | A/G | — | uncertain significance |
| rs2504810006 | 15:41,148,233 | T/A | — | uncertain significance |
| rs184233395 | 15:41,148,239 | G/C | — | uncertain significance |
| rs201870536 | 15:41,148,248 | C/T | — | uncertain significance |
| rs368525506 | 15:41,148,497 | C/T | — | uncertain significance |
| rs757022193 | 15:41,148,983 | C/A | — | uncertain significance |
| rs375785043 | 15:41,148,985 | G/A | — | likely benign |
| rs142240169 | 15:41,148,988 | G/A | — | benign |
| rs150664806 | 15:41,149,018 | G/A | — | uncertain significance |
| rs139238995 | 15:41,149,114 | G/A | — | uncertain significance |
| rs761668755 | 15:41,149,133 | C/T | — | uncertain significance |
| rs751802448 | 15:41,149,162 | C/T | — | uncertain significance |
| rs377450581 | 15:41,149,163 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.