SWISSVAR
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1 protein found in SwissVar (15 variants)

with gene/protein name Q99502

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)
Q99502 EYA1_HUMAN branchiootorenal syndrome 1 p.Pro95Ser
p.Gly140Ser
p.Glu363Val
p.Gly426Ser
p.Asp429Gly
p.Arg440Gln
p.Ser487Pro
p.Leu505Arg
p.Leu514Pro
p.Tyr527Cys
p.Met569Thr
p.Leu583Pro












Q99502 EYA1_HUMAN otofaciocervical syndrome 1
Q99502 EYA1_HUMAN branchiootic syndrome 1 p.Ser242Gly

Q99502 EYA1_HUMAN anterior segment anomalies with or without cataract p.Glu363Lys
p.Arg547Gly