SWISSVAR
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1 protein found in SwissVar (17 variants)

with gene/protein name Q04695

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)
Q04695 K1C17_HUMAN pachyonychia congenita 2 p.Met88Lys
p.Met88Thr
p.Leu91Pro
p.Asn92Ser
p.Asn92Asp
p.Arg94Cys
p.Arg94Pro
p.Arg94His
p.Leu95Gln
p.Leu95Pro
p.Tyr98Asp
p.Leu99Pro
p.Val102Met
p.Asn109Asp
p.Leu388Arg
p.Leu388Pro
















Q04695 K1C17_HUMAN steatocystoma multiplex p.Met88Thr
p.Asn92His
p.Arg94Cys
p.Arg94His




Q04695 K1C17_HUMAN the uterine cervix and in psoriasis vulgaris