SWISSVAR
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1 protein found in SwissVar (9 variants)

with gene/protein name Q96QS3

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)
Q96QS3 ARX_HUMAN lissencephaly, x-linked 2 p.Arg332Pro
p.Arg332His
p.Leu343Gln
p.Pro353Arg
p.Ala521Thr





Q96QS3 ARX_HUMAN epileptic encephalopathy, early infantile, 1 p.Pro353Leu

Q96QS3 ARX_HUMAN partington syndrome
Q96QS3 ARX_HUMAN mental retardation, x-linked, with or without seizures, arx-related p.Leu33Pro
p.Gly286Ser


Q96QS3 ARX_HUMAN agenesis of the corpus callosum, with abnormal genitalia p.Thr333Asn