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 |
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