SWISSVAR

1 protein found in SwissVar (5 variants)

with gene/protein name P14867

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)
P14867 GBRA1_HUMAN epilepsy, childhood absence 4
P14867 GBRA1_HUMAN epilepsy, idiopathic generalized 13 p.Asp219Asn

P14867 GBRA1_HUMAN juvenile myoclonic epilepsy 5 p.Ala322Asp

P14867 GBRA1_HUMAN epileptic encephalopathy, early infantile, 19 p.Arg112Gln
p.Gly251Ser
p.Lys306Thr