SWISSVAR

1 protein found in SwissVar (18 variants)

with gene/protein name P13645

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P13645 K1C10_HUMAN p.Ile101Ser
p.Gly126Ser
p.Met150Thr
p.His487Tyr




P13645 K1C10_HUMAN epidermolytic hyperkeratosis p.Met150Arg
p.Asn154His
p.Arg156Cys
p.Arg156Ser
p.Arg156His
p.Arg156Pro
p.Tyr160Asp
p.Tyr160Ser
p.Tyr160Asn
p.Leu161Ser
p.Lys439Glu
p.Leu442Gln












P13645 K1C10_HUMAN ichthyosis annular epidermolytic p.Arg422Glu
p.Ile446Thr


P13645 K1C10_HUMAN erythroderma, ichthyosiform, congenital reticular