KLK1
kallikrein 1
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. This protein is functionally conserved in its capacity to release the vasoactive peptide, Lys-bradykinin, from low molecular weight kininogen. [provided by RefSeq, Jul 2008]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs138173062 | 19:51,322,476 | C/T | — | likely benign |
| rs56349210 | 19:51,322,484 | T/A | missense variant | — |
| rs576085704 | 19:51,322,506 | C/T | — | uncertain significance |
| rs746541339 | 19:51,322,508 | G/A | — | uncertain significance |
| rs768176494 | 19:51,322,509 | C/A | — | uncertain significance |
| rs781212588 | 19:51,323,201 | A/T | — | uncertain significance |
| rs752538325 | 19:51,323,203 | G/T | — | likely benign |
| rs3212857 | 19:51,323,221 | G/A | — | likely benign |
| rs372142347 | 19:51,323,464 | C/T | — | uncertain significance |
| rs5516 | 19:51,323,473 | C/T | missense variant | — |
| rs745942207 | 19:51,323,496 | A/G | — | uncertain significance |
| rs2089816846 | 19:51,323,524 | C/T | — | uncertain significance |
| rs2089817598 | 19:51,323,554 | T/G | — | uncertain significance |
| rs201758437 | 19:51,323,563 | C/T | — | uncertain significance |
| rs1372564887 | 19:51,323,592 | A/C | — | uncertain significance |
| rs1226279168 | 19:51,323,620 | A/G | — | uncertain significance |
| rs2513863665 | 19:51,323,638 | C/A | — | uncertain significance |
| rs764480797 | 19:51,323,647 | C/T | — | uncertain significance |
| rs5515 | 19:51,323,676 | C/T | missense variant | affects |
| rs146975864 | 19:51,324,969 | C/T | — | uncertain significance |
| rs117845844 | 19:51,325,011 | C/A | — | uncertain significance |
| rs755116741 | 19:51,325,055 | G/A | — | likely benign |
| rs1226369960 | 19:51,325,070 | G/A | — | uncertain significance |
| rs560586506 | 19:51,325,103 | C/T | — | uncertain significance |
| rs775012727 | 19:51,325,115 | G/C | — | uncertain significance |
| rs760108802 | 19:51,325,119 | G/T | — | uncertain significance |
| rs372418114 | 19:51,326,970 | A/G | — | uncertain significance |
| rs191306706 | 19:51,326,981 | G/A | — | benign |
| rs3212810 | 19:51,328,736 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.