SWISSVAR
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1 protein found in SwissVar (12 variants)

with gene/protein name Q13224

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)
Q13224 NMDE2_HUMAN mental retardation, autosomal dominant 6, with or without seizures p.Glu413Gly
p.Cys436Arg
p.Cys456Tyr
p.Cys461Phe
p.Pro553Leu
p.Arg682Cys
p.Arg696His
p.Gly820Glu








Q13224 NMDE2_HUMAN epileptic encephalopathy, early infantile, 27 p.Val15Met
p.Arg540His
p.Asn615Ile
p.Val618Gly




Q13224 NMDE2_HUMAN mental retardation