SWISSVAR
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1 protein found in SwissVar (7 variants)

with gene/protein name Q96CV9

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)
Q96CV9 OPTN_HUMAN glaucoma 1, open angle, e p.His26Asp
p.Glu50Lys
p.Glu103Asp
p.His486Arg
p.Arg545Gln





Q96CV9 OPTN_HUMAN glaucoma, normal pressure
Q96CV9 OPTN_HUMAN amyotrophic lateral sclerosis 12 p.Val295Phe
p.Glu478Gly