1 protein found in SwissVar (18 variants)
with gene/protein name P23415
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) |
---|---|---|---|---|
P23415 | GLRA1_HUMAN | hyperekplexia 1 | p.Arg93Trp p.Arg100Cys p.Arg246Trp p.Gln254Glu p.Pro258Ser p.Ile272Asn p.Pro278Thr p.Arg280His p.Gln294His p.Arg299Leu p.Arg299Gln p.Lys304Glu p.Tyr307Cys p.Val308Met p.Leu319Pro p.Asp424Ala p.Arg428His p.Arg450His |
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