SWISSVAR
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1 protein found in SwissVar (5 variants)

with gene/protein name O75899

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)
O75899 GABR2_HUMAN neurodevelopmental disorder with poor language and loss of hand skills p.Ala567Thr
p.Ala707Thr


O75899 GABR2_HUMAN epileptic encephalopathy, early infantile, 59 p.Gly693Trp
p.Ser695Ile
p.Ile705Asn