KLK12
kallikrein related peptidase 12
Summary
Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs191916982 | 19:51,532,580 | C/T | — | likely benign |
| rs201481008 | 19:51,532,581 | G/A | — | uncertain significance |
| rs1235800888 | 19:51,532,631 | T/A | — | uncertain significance |
| rs199952513 | 19:51,532,713 | C/A | — | uncertain significance |
| rs761388782 | 19:51,535,134 | C/T | — | uncertain significance |
| rs368392387 | 19:51,535,135 | G/A | — | likely benign |
| rs754137431 | 19:51,535,174 | C/T | — | likely benign |
| rs772006967 | 19:51,535,177 | T/A | — | uncertain significance |
| rs768548547 | 19:51,535,188 | G/T | — | uncertain significance |
| rs1342322691 | 19:51,535,197 | T/C | — | likely benign |
| rs147175192 | 19:51,535,237 | C/T | — | uncertain significance |
| rs376059650 | 19:51,535,246 | G/A | — | uncertain significance |
| rs2514324202 | 19:51,535,265 | G/C | — | uncertain significance |
| rs368877002 | 19:51,535,273 | C/T | — | uncertain significance |
| rs16988834 | 19:51,535,283 | C/T | — | benign |
| rs151092558 | 19:51,535,322 | G/T | — | uncertain significance |
| rs546276676 | 19:51,535,348 | C/T | — | uncertain significance |
| rs2514324784 | 19:51,535,363 | T/C | — | uncertain significance |
| rs183006683 | 19:51,537,254 | G/A | — | uncertain significance |
| rs187676265 | 19:51,537,255 | C/A | — | uncertain significance |
| rs764976644 | 19:51,537,264 | C/T | — | uncertain significance |
| rs1180551906 | 19:51,537,309 | C/A | — | uncertain significance |
| rs761682794 | 19:51,537,313 | A/C | — | uncertain significance |
| rs2091587468 | 19:51,537,321 | C/T | — | uncertain significance |
| rs61742854 | 19:51,537,358 | G/A | — | benign |
| rs3865443 | 19:51,537,682 | C/T | — | — |
| rs143108777 | 19:51,537,873 | C/T | — | uncertain significance |
| rs2569459 | 19:51,539,433 | C/G | — | — |
| rs3760744 | 19:51,539,606 | C/G | upstream gene variant | — |
| rs146775340 | 19:51,539,918 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.