SWISSVAR
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1 protein found in SwissVar (21 variants)

with gene/protein name Q9UMX9

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)
Q9UMX9 S45A2_HUMAN albinism, oculocutaneous, 4 p.Met42Ile
p.Pro58Ala
p.Pro58Ser
p.Leu60Arg
p.Gly64Ser
p.Gly110Arg
p.Leu151Pro
p.Asp157Asn
p.Asp160His
p.Gly188Val
p.Trp202Cys
p.His233Gln
p.Thr302Ser
p.Tyr317Cys
p.Arg348Cys
p.Gly349Arg
p.Leu361Pro
p.Glu368Lys
p.Phe418Leu
p.Ala477Thr
p.Ala486Val