SWISSVAR
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1 protein found in SwissVar (9 variants)

with gene/protein name Q9NZR4

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)
Q9NZR4 VSX1_HUMAN keratoconus 1 p.Leu17Pro
p.Leu159Met
p.Gly160Asp
p.Arg166Trp
p.Gln175His
p.Gly239Arg
p.His244Arg
p.Pro247Arg








Q9NZR4 VSX1_HUMAN craniofacial anomalies and anterior segment dysgenesis syndrome p.Ala256Ser