SWISSVAR
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1 protein found in SwissVar (15 variants)

with gene/protein name Q9H237

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)
Q9H237 PORCN_HUMAN focal dermal hypoplasia p.Gly60Arg
p.Ser136Phe
p.Gly168Arg
p.His252Tyr
p.Val258Glu
p.Ser297Leu
p.Leu331Arg
p.His341Leu
p.Glu361Val
p.Arg365Gln
p.Arg365Gly
p.Ala374Pro
p.Cys385Arg
p.Cys385Tyr
p.Trp439Arg