SWISSVAR
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1 protein found in SwissVar (30 variants)

with gene/protein name P78562

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)
P78562 PHEX_HUMAN hypophosphatemic rickets, x-linked dominant p.Cys77Ser
p.Phe80Ser
p.Cys85Arg
p.Cys85Phe
p.Cys85Tyr
p.Leu138Pro
p.Ser141Pro
p.Cys142Phe
p.Leu160Arg
p.Arg166Cys
p.Asp237Gly
p.Phe252Ser
p.Met253Ile
p.Tyr317Phe
p.Trp530Cys
p.Pro534Leu
p.Leu555Pro
p.Arg567Pro
p.Ala573Asp
p.Gly579Val
p.Gly579Arg
p.Gln621Arg
p.Arg651Pro
p.Asn680Lys
p.Cys693Tyr
p.Ala720Thr
p.Phe731Tyr
p.Cys733Ser
p.Cys746Trp
p.Trp749Arg