SPINK2
serine peptidase inhibitor Kazal type 2
Summary
This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs375854132 | 4:57,676,353 | G/A | — | uncertain significance |
| rs368929102 | 4:57,677,869 | G/A | — | uncertain significance |
| rs557762119 | 4:57,686,703 | G/A | — | uncertain significance |
| rs142611048 | 4:57,686,704 | T/C | — | uncertain significance |
| rs114989645 | 4:57,686,735 | G/A | — | benign |
| rs2475701769 | 4:57,686,736 | A/C | — | uncertain significance |
| rs577163578 | 4:57,686,748 | G/C | — | pathogenic |
| rs781543 | 4:57,687,711 | T/C | — | benign |
| rs781544 | 4:57,687,719 | C/T | — | benign |
| rs771414831 | 4:57,687,777 | C/T | — | uncertain significance |
| rs781093100 | 4:57,687,835 | C/G | — | likely benign |
| rs28488855 | 4:57,688,372 | C/A | upstream gene variant | — |
| rs11941335 | 4:57,689,460 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.