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

Gene information from NCBI Gene. Variant classifications from ClinVar.