SWISSVAR
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1 protein found in SwissVar (6 variants)

with gene/protein name P49585

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)
P49585 PCY1A_HUMAN spondylometaphyseal dysplasia with cone-rod dystrophy p.Ala99Val
p.Ala99Thr
p.Glu129Lys
p.Pro150Ala
p.Phe191Leu
p.Arg223Ser