KLK4
kallikrein related peptidase 4
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. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Several transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Dec 2014]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs73042387 | 19:51,410,171 | A/G | — | benign |
| rs142492326 | 19:51,410,199 | C/T | — | likely benign |
| rs140350753 | 19:51,410,258 | C/T | — | uncertain significance |
| rs144350395 | 19:51,410,275 | G/A | — | uncertain significance |
| rs35945487 | 19:51,410,286 | G/A | synonymous variant | — |
| rs776434215 | 19:51,410,314 | T/C | — | uncertain significance |
| rs1266288524 | 19:51,410,318 | A/G | — | pathogenic |
| rs556734208 | 19:51,410,323 | — | — | pathogenic |
| rs198965 | 19:51,410,398 | G/A | — | benign |
| rs2235091 | 19:51,410,471 | G/A | — | benign |
| rs1701929 | 19:51,411,329 | A/G | — | benign |
| rs2979451 | 19:51,411,388 | C/T | — | benign |
| rs189903 | 19:51,411,565 | C/T | — | benign |
| rs2569527 | 19:51,411,636 | G/T | — | benign |
| rs2513981596 | 19:51,411,646 | C/T | — | uncertain significance |
| rs201312889 | 19:51,411,682 | T/C | — | uncertain significance |
| rs1051887391 | 19:51,411,721 | T/C | — | uncertain significance |
| rs149847568 | 19:51,411,742 | G/A | — | uncertain significance |
| rs34626614 | 19:51,411,751 | C/T | — | benign |
| rs267605602 | 19:51,411,835 | C/T | — | uncertain significance |
| rs745811664 | 19:51,411,836 | G/C | — | uncertain significance |
| rs104894704 | 19:51,411,852 | C/T | stop gained | pathogenic |
| rs143632081 | 19:51,411,867 | C/T | — | uncertain significance |
| rs1600046626 | 19:51,411,898 | C/A | — | uncertain significance |
| rs198966 | 19:51,412,010 | G/A | — | benign |
| rs45623731 | 19:51,412,013 | T/G | — | benign |
| rs529400471 | 19:51,412,057 | T/C | — | uncertain significance |
| rs145560168 | 19:51,412,072 | C/G | missense variant | — |
| rs2242670 | 19:51,412,315 | G/A | — | benign |
| rs2978643 | 19:51,412,326 | C/G | — | benign |
| rs73042402 | 19:51,412,416 | G/C | — | benign |
| rs201555681 | 19:51,412,506 | A/G | — | likely pathogenic |
| rs1185328501 | 19:51,412,562 | G/T | — | pathogenic |
| rs2090465168 | 19:51,412,612 | G/C | — | uncertain significance |
| rs1654552 | 19:51,412,666 | C/A | — | benign |
| rs1224760405 | 19:51,412,667 | G/C | — | uncertain significance |
| rs1654551 | 19:51,412,668 | C/A | — | benign |
| rs77569647 | 19:51,412,839 | T/G | — | benign |
| rs2242669 | 19:51,413,790 | A/G | — | benign |
| rs198969 | 19:51,413,802 | C/G | — | benign |
| rs2978642 | 19:51,413,906 | A/T | — | benign |
| rs112486208 | 19:51,413,956 | C/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.