KLK14
kallikrein related peptidase 14
Summary
This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201317571 | 19:51,581,368 | C/T | — | uncertain significance |
| rs183423924 | 19:51,582,098 | G/A | — | uncertain significance |
| rs368104960 | 19:51,582,110 | A/G | — | uncertain significance |
| rs763277116 | 19:51,582,113 | C/T | — | uncertain significance |
| rs200505258 | 19:51,582,166 | G/A | — | conflicting classifications of pathogenicity |
| rs184705974 | 19:51,582,741 | C/G | — | uncertain significance |
| rs112658494 | 19:51,582,808 | G/A | missense variant | — |
| rs370841624 | 19:51,582,876 | G/A | — | uncertain significance |
| rs112710289 | 19:51,582,937 | T/C | — | uncertain significance |
| rs184997153 | 19:51,583,192 | T/C | intron variant | — |
| rs576056416 | 19:51,583,443 | T/A | — | — |
| rs376155491 | 19:51,584,793 | G/A | — | uncertain significance |
| rs373793602 | 19:51,584,856 | G/A | — | uncertain significance |
| rs377535371 | 19:51,584,882 | G/A | — | likely benign |
| rs186627912 | 19:51,585,065 | A/G | intron variant | — |
| rs200697524 | 19:51,585,830 | A/G | — | uncertain significance |
| rs1461768101 | 19:51,585,843 | A/G | — | uncertain significance |
| rs762132276 | 19:51,585,876 | G/A | — | uncertain significance |
| rs1380999540 | 19:51,585,897 | T/A | — | likely benign |
| rs117229324 | 19:51,585,978 | T/C | — | likely benign |
| rs73596517 | 19:51,586,527 | G/T | — | — |
| rs149079128 | 19:51,586,586 | G/T | — | — |
| rs118089616 | 19:51,588,897 | G/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.