SWISSVAR
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1 protein found in SwissVar (5 variants)

with gene/protein name P58304

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)
P58304 VSX2_HUMAN microphthalmia, isolated, 2 p.Gly223Ala
p.Arg227Trp


P58304 VSX2_HUMAN microphthalmia with cataracts and iris abnormalities p.Arg200Gln
p.Arg200Pro


P58304 VSX2_HUMAN microphthalmia, isolated, with coloboma, 3 p.Gly223Arg