SWISSVAR
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1 protein found in SwissVar (11 variants)

with gene/protein name P28472

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)
P28472 GBRB3_HUMAN epilepsy, childhood absence 5 p.Gly32Arg

P28472 GBRB3_HUMAN epileptic encephalopathy, early infantile, 43 p.Asp120Asn
p.Leu124Phe
p.Thr157Met
p.Tyr182Phe
p.Gln249Lys
p.Ser254Phe
p.Leu256Gln
p.Thr287Ile
p.Leu293His
p.Ala305Thr