SWISSVAR
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1 protein found in SwissVar (19 variants)

with gene/protein name Q9Y6H8

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)
Q9Y6H8 CXA3_HUMAN cataract 14, multiple types p.Gly2Asp
p.Asp3Tyr
p.Val28Met
p.Phe32Leu
p.Arg33Leu
p.Val44Met
p.Trp45Ser
p.Asp47Asn
p.Glu48Gly
p.Pro59Leu
p.Asn63Ser
p.Arg76Gly
p.Arg76His
p.Thr87Met
p.Gly143Glu
p.Pro187Leu
p.Pro187Ser
p.Asn188Thr
p.Asn188Ile