SWISSVAR
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1 protein found in SwissVar (18 variants)

with gene/protein name Q5T1H1

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)
Q5T1H1 EYS_HUMAN retinitis pigmentosa 25 p.Gly618Ser
p.Asn745Ser
p.Thr1110Ser
p.Cys1176Arg
p.Ile1232Phe
p.Trp1484Arg
p.Asp1682Tyr
p.Glu1747Gly
p.Leu1869Met
p.Gly2017Val
p.Cys2139Tyr
p.Leu2189Pro
p.Ser2211Leu
p.Glu2503Lys
p.Ala2829Thr
p.Cys2911Tyr
p.Gly2928Glu
p.Gln2945Glu