SWISSVAR
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1 protein found in SwissVar (8 variants)

with gene/protein name P12081

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)
P12081 SYHC_HUMAN usher syndrome 3b p.Tyr454Ser

P12081 SYHC_HUMAN charcot-marie-tooth disease 2w p.Thr132Ile
p.Pro134His
p.Arg137Gln
p.Asp175Glu
p.Val238Ala
p.Asp364Tyr
p.Pro505Ser