SWISSVAR
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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