KRT39

keratin 39

Summary

This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]

Known Variants32 total

rsidPosition (GRCh37)AllelesClassClinVar
rs48335277617:39,114,868T/G—uncertain significance
rs191099784117:39,114,887T/A—uncertain significance
rs76546048917:39,114,891C/A—uncertain significance
rs20151912517:39,114,915T/C—uncertain significance
rs77314520717:39,114,959A/G—uncertain significance
rs20018442217:39,115,034G/A—uncertain significance
rs14538988817:39,115,082C/T—uncertain significance
rs14246629117:39,115,095G/A—likely benign
rs76361835817:39,116,549C/G—uncertain significance
rs75138183317:39,116,557C/T—uncertain significance
rs20105371917:39,116,587C/T—uncertain significance
rs76232286517:39,116,612C/T—uncertain significance
rs250860711917:39,116,623T/C—uncertain significance
rs250860715917:39,116,638G/A—uncertain significance
rs14594823817:39,116,714G/A—uncertain significance
rs55539184417:39,118,418C/T—uncertain significance
rs15076038917:39,118,460C/A—uncertain significance
rs75958721617:39,118,461G/A—uncertain significance
rs20120007217:39,118,472A/G—uncertain significance
rs76142828717:39,118,533C/T—uncertain significance
rs75527685717:39,118,658G/A—uncertain significance
rs132065654917:39,118,677C/T—uncertain significance
rs104509185317:39,118,682T/C—likely benign
rs36778502317:39,118,734C/T—uncertain significance
rs77676685817:39,118,766A/C—uncertain significance
rs37149039317:39,118,773T/C—uncertain significance
rs75721399217:39,120,708A/T—uncertain significance
rs14662933117:39,122,660A/G—uncertain significance
rs14720074417:39,122,874G/A—likely benign
rs75417360917:39,122,912C/G—uncertain significance
rs14723482017:39,122,939T/C—uncertain significance
rs77676718117:39,123,096C/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.