SWISSVAR
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1 protein found in SwissVar (4 variants)

with gene/protein name O43426

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)
O43426 SYNJ1_HUMAN parkinson disease 20, early-onset p.Arg219Gln
p.Arg420Pro
p.Ser1383Arg



O43426 SYNJ1_HUMAN epileptic encephalopathy, early infantile, 53 p.Tyr849Cys