SWISSVAR
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1 protein found in SwissVar (9 variants)

with gene/protein name P47870

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)
P47870 GBRB2_HUMAN epileptic encephalopathy, infantile or early childhood, 2 p.Met79Thr
p.Tyr244His
p.Leu277Ser
p.Thr284Lys
p.Thr287Pro
p.Arg293Pro
p.Lys303Arg
p.Ala304Val
p.Val316Ile