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1 protein found in SwissVar (19 variants)

with gene/protein name P04264

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)
P04264 K2C1_HUMAN epidermolytic hyperkeratosis p.Val155Asp
p.Val155Gly
p.Leu161Pro
p.Ser186Pro
p.Asn188Lys
p.Asn188Thr
p.Asn188Ser
p.Ser193Pro
p.Leu214Pro
p.Asp340Val
p.Glu478Gln
p.Ile479Thr
p.Tyr482Cys
p.Leu485Pro
p.Leu486Pro
p.Glu490Gln
p.Glu490Lys

















P04264 K2C1_HUMAN ichthyosis hystrix, curth-macklin type
P04264 K2C1_HUMAN keratoderma, palmoplantar, non-epidermolytic p.Lys74Ile

P04264 K2C1_HUMAN ichthyosis annular epidermolytic p.Ile479Thr
p.Ile479Phe


P04264 K2C1_HUMAN keratoderma, palmoplantar, striate 3