KLK11
kallikrein related peptidase 11
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 and the use of alternate promoters results in multiple transcript variants encoding distinct isoforms which are differentially expressed. [provided by RefSeq, Dec 2016]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs778575456 | 19:51,525,817 | G/A | — | uncertain significance |
| rs369629996 | 19:51,525,853 | G/A | — | uncertain significance |
| rs375260719 | 19:51,526,465 | C/G | — | uncertain significance |
| rs766741844 | 19:51,526,469 | G/A | — | uncertain significance |
| rs776611966 | 19:51,527,384 | C/T | — | uncertain significance |
| rs112443009 | 19:51,527,412 | A/T | — | likely benign |
| rs2514275214 | 19:51,527,438 | T/C | — | uncertain significance |
| rs768799596 | 19:51,527,468 | T/C | — | uncertain significance |
| rs191149606 | 19:51,527,475 | C/T | — | uncertain significance |
| rs150197082 | 19:51,527,564 | C/T | — | uncertain significance |
| rs201147335 | 19:51,527,945 | G/A | — | uncertain significance |
| rs146041341 | 19:51,528,012 | C/T | — | uncertain significance |
| rs776782387 | 19:51,528,038 | C/T | — | pathogenic |
| rs1171661721 | 19:51,528,039 | C/T | — | pathogenic |
| rs368774258 | 19:51,528,898 | G/A | — | uncertain significance |
| rs141778830 | 19:51,528,908 | G/C | — | uncertain significance |
| rs143406762 | 19:51,530,640 | G/A | downstream gene variant | — |
| rs372936267 | 19:51,530,722 | T/C | — | likely benign |
| rs1255015511 | 19:51,530,733 | C/T | — | likely benign |
| rs753143187 | 19:51,530,749 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.