SWISSVAR
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1 protein found in SwissVar (12 variants)

with gene/protein name O75503

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)
O75503 CLN5_HUMAN ceroid lipofuscinosis, neuronal, 5 p.Arg63Pro
p.Arg63His
p.Cys77Tyr
p.Asn143Ser
p.Leu149Pro
p.Pro156Ser
p.Trp158Ser
p.Trp158Arg
p.Tyr209Asp
p.Asp230Asn
p.Tyr325Cys
p.Trp330Cys