SWISSVAR
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1 protein found in SwissVar (8 variants)

with gene/protein name P50993

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)
P50993 AT1A2_HUMAN migraine, familial hemiplegic, 2 p.Arg689Gln
p.Gly715Arg
p.Met731Thr
p.Leu764Pro
p.Gly874Ser
p.Trp887Arg
p.Arg1007Trp







P50993 AT1A2_HUMAN alternating hemiplegia of childhood 1 p.Thr378Asn