KRT8
keratin 8
Summary
This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
Known Variants62 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs267607663 | 12:53,291,174 | C/T | — | not provided |
| rs267607662 | 12:53,291,181 | G/A | — | not provided |
| rs201942002 | 12:53,291,204 | G/A | — | not provided |
| rs61730606 | 12:53,291,226 | C/T | — | benign |
| rs386834222 | 12:53,291,252 | C/T | — | uncertain significance |
| rs201507031 | 12:53,291,272 | C/A | — | uncertain significance |
| rs267607479 | 12:53,291,304 | G/A | — | not provided |
| rs542852966 | 12:53,291,308 | G/A | — | likely benign |
| rs386834223 | 12:53,291,324 | G/A | — | likely benign |
| rs748771942 | 12:53,291,330 | G/C | — | uncertain significance |
| rs2539417263 | 12:53,291,334 | C/T | — | uncertain significance |
| rs371150067 | 12:53,291,359 | G/A | — | likely benign |
| rs58573614 | 12:53,291,364 | C/T | — | benign |
| rs753856393 | 12:53,291,399 | C/A | — | uncertain significance |
| rs267607665 | 12:53,292,225 | C/T | — | not provided |
| rs185715618 | 12:53,292,236 | G/A | — | benign |
| rs189690662 | 12:53,292,417 | T/A | — | not provided |
| rs199648626 | 12:53,292,462 | C/T | — | uncertain significance |
| rs777964430 | 12:53,292,491 | T/C | — | uncertain significance |
| rs56997521 | 12:53,292,527 | C/T | — | likely benign |
| rs61616174 | 12:53,292,537 | C/T | — | not provided |
| rs764622352 | 12:53,292,614 | C/T | — | uncertain significance |
| rs386834221 | 12:53,292,632 | C/A | — | not provided |
| rs57422427 | 12:53,292,643 | C/T | — | benign |
| rs62636489 | 12:53,292,644 | G/A | — | not provided |
| rs112222496 | 12:53,292,651 | G/A | — | likely benign |
| rs149659927 | 12:53,292,665 | C/T | — | uncertain significance |
| rs7750 | 12:53,292,666 | G/A | — | benign |
| rs58912304 | 12:53,293,585 | C/A | — | likely benign |
| rs997730766 | 12:53,293,594 | G/A | — | uncertain significance |
| rs2539422792 | 12:53,293,610 | C/A | — | uncertain significance |
| rs764434285 | 12:53,293,801 | A/C | — | uncertain significance |
| rs8608 | 12:53,294,381 | T/C | — | not provided |
| rs1297801562 | 12:53,294,437 | C/T | — | uncertain significance |
| rs202170959 | 12:53,294,964 | G/A | — | likely benign |
| rs2539426219 | 12:53,294,965 | T/C | — | uncertain significance |
| rs761376065 | 12:53,294,981 | G/C | — | uncertain significance |
| rs779838614 | 12:53,295,706 | G/T | — | uncertain significance |
| rs747580097 | 12:53,295,742 | G/C | — | uncertain significance |
| rs2539428475 | 12:53,295,816 | T/G | — | likely benign |
| rs2539433351 | 12:53,298,548 | A/C | — | uncertain significance |
| rs58262021 | 12:53,298,550 | C/T | — | not provided |
| rs59536457 | 12:53,298,579 | T/C | — | likely benign |
| rs11554495 | 12:53,298,582 | C/A | missense variant | uncertain significance |
| rs57282588 | 12:53,298,602 | C/G | — | not provided |
| rs2120583347 | 12:53,298,605 | T/C | — | uncertain significance |
| rs57749775 | 12:53,298,606 | A/G | missense variant | risk factor |
| rs61710484 | 12:53,298,608 | C/A | — | not provided |
| rs778111216 | 12:53,298,671 | C/G | — | uncertain significance |
| rs112876857 | 12:53,298,679 | G/A | — | likely benign |
| rs57286292 | 12:53,298,689 | G/C | — | not provided |
| rs754652686 | 12:53,298,717 | G/A | — | uncertain significance |
| rs549320537 | 12:53,298,741 | A/C | — | uncertain significance |
| rs1065306 | 12:53,298,769 | A/G | — | benign |
| rs13098 | 12:53,298,775 | A/T | — | benign |
| rs771819471 | 12:53,298,794 | C/T | — | likely benign |
| rs55958994 | 12:53,301,019 | C/T | regulatory region variant | benign |
| rs4919743 | 12:53,309,584 | G/A | intron variant | — |
| rs527678952 | 12:53,309,769 | A/G | — | — |
| rs73110464 | 12:53,312,612 | C/A | — | — |
| rs142025399 | 12:53,315,665 | C/T | intron variant | — |
| rs57758506 | 12:53,343,340 | A/T | missense variant | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.