SWISSVAR
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1 protein found in SwissVar (7 variants)

with gene/protein name P32243

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)
P32243 OTX2_HUMAN microphthalmia, syndromic, 5 p.Arg89Gly
p.Arg90Ser
p.Pro133Thr
p.Pro134Ala




P32243 OTX2_HUMAN pituitary hormone deficiency, combined, 6 p.Pro134Arg
p.Asn225Ser


P32243 OTX2_HUMAN retinal dystrophy, early-onset, with or without pituitary dysfunction p.Glu79Lys