Variant: rs60399023

present in Gene: KRT14 present in Chromosome: 17 Position on Chromosome: 41586462 Alleles of this Variant: G/A;C

rs60399023 in KRT14 gene and Epidermolysis Bullosa Simplex PMID 20151404 2010 The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation.