Details for Gene KRT14

GENE NAME KRT14
CHROMOSOME 17
ENSEMBL ID ENSG00000186847
ENTREZ ID 3861
UNIPROT ACCESSION NUMBER P02533
GO MOLECULAR FUNCTION structural constituent of cytoskeleton; protein binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-1500931; hsa04915; R-HSA-6809371; R-HSA-1266738; R-HSA-446107; R-HSA-446728; R-HSA-6805567; hsa05150
4 combinations linked to KRT14 OLI414; OLI250; OLI240; OLI517
4 variants linked to KRT14 KRT14:c.815T>C, p.Met272Thr; KRT14:c.881T>C, p.Met294Thr; KRT14:c.1163G>A, p.Arg388His; KRT14:c.380C>T, p.Ala127Val
1 disease linked to KRT14 Epidermolysis bullosa simplex

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