SWISSVAR
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1 protein found in SwissVar (6 variants)

with gene/protein name P08473

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)
P08473 NEP_HUMAN charcot-marie-tooth disease 2t p.Asp12Ala
p.Tyr347Cys
p.Ala348Pro
p.Ala422Asp
p.Cys621Arg





P08473 NEP_HUMAN spinocerebellar ataxia 43 p.Cys143Tyr