Gene: KRT14 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs59629244
rs59629244
KRT14
0.800 GeneticVariation UNIPROT

dbSNP: rs61371557
rs61371557
KRT14
0.800 GeneticVariation UNIPROT

dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. 16786515

2006
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. 16786515

2006
dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. 11710919

2001
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. 11710919

2001
dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis. 10733662

2000
dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex. 10820403

2000
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex. 10820403

2000
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis. 10733662

2000
dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. 9989794

1999
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. 9989794

1999
dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex. 7526926

1994
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex. 7526926

1994
dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex. 7682883

1993
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex. 7682883

1993
dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. 1720261

1991
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. 1720261

1991
dbSNP: rs147611635
rs147611635
KRT14
0.700 GeneticVariation UNIPROT

dbSNP: rs58380626
rs58380626
KRT14
0.700 GeneticVariation UNIPROT

dbSNP: rs59780231
rs59780231
KRT14
0.700 GeneticVariation UNIPROT

dbSNP: rs61027685
rs61027685
KRT14
0.700 GeneticVariation UNIPROT

dbSNP: rs61263401
rs61263401
KRT14
0.700 GeneticVariation UNIPROT

dbSNP: rs61540016
rs61540016
KRT14
0.700 GeneticVariation UNIPROT