KRT19
keratin 19
Summary
The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. The type I cytokeratins are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2008]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141241260 | 17:39,680,011 | G/T | — | uncertain significance |
| rs139350359 | 17:39,680,084 | G/A | — | uncertain significance |
| rs571985366 | 17:39,680,086 | G/A | — | uncertain significance |
| rs540541902 | 17:39,680,126 | G/A | — | uncertain significance |
| rs758714037 | 17:39,680,140 | C/T | — | uncertain significance |
| rs922709395 | 17:39,680,168 | C/T | — | likely benign |
| rs144149113 | 17:39,680,191 | G/T | — | uncertain significance |
| rs376534668 | 17:39,680,397 | T/C | — | uncertain significance |
| rs372765177 | 17:39,680,442 | G/A | — | uncertain significance |
| rs2508682810 | 17:39,680,471 | A/G | — | uncertain significance |
| rs771481229 | 17:39,680,662 | C/T | — | uncertain significance |
| rs2508683352 | 17:39,680,719 | A/G | — | uncertain significance |
| rs267607654 | 17:39,680,768 | C/T | — | not provided |
| rs117671585 | 17:39,681,195 | C/T | — | uncertain significance |
| rs267607655 | 17:39,681,203 | G/A | — | not provided |
| rs771025048 | 17:39,681,220 | C/T | — | uncertain significance |
| rs758370517 | 17:39,681,470 | C/G | — | uncertain significance |
| rs745980820 | 17:39,681,471 | G/A | — | uncertain significance |
| rs4601 | 17:39,681,475 | A/G | — | not provided |
| rs142747608 | 17:39,681,481 | G/A | — | benign |
| rs551772399 | 17:39,682,487 | A/G | — | — |
| rs748307968 | 17:39,684,114 | T/G | — | uncertain significance |
| rs762516673 | 17:39,684,169 | T/G | — | uncertain significance |
| rs145569885 | 17:39,684,269 | C/A | — | benign |
| rs748778982 | 17:39,684,279 | C/A | — | uncertain significance |
| rs768328714 | 17:39,684,280 | C/A | — | uncertain significance |
| rs1434351545 | 17:39,684,307 | A/T | — | uncertain significance |
| rs4602 | 17:39,684,321 | G/C | — | not provided |
| rs2508688957 | 17:39,684,343 | C/A | — | uncertain significance |
| rs897921295 | 17:39,684,372 | C/T | — | uncertain significance |
| rs200465465 | 17:39,684,402 | G/T | — | uncertain significance |
| rs11550883 | 17:39,684,410 | G/A | — | benign |
| rs770740803 | 17:39,684,425 | A/C | — | uncertain significance |
| rs200777034 | 17:39,684,451 | C/T | — | not provided |
| rs373835703 | 17:39,684,481 | G/T | — | uncertain significance |
| rs56051972 | 17:39,684,598 | C/G | — | not provided |
Gene information from NCBI Gene. Variant classifications from ClinVar.