SWISSVAR
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1 protein found in SwissVar (21 variants)

with gene/protein name P40763

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)
P40763 STAT3_HUMAN hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant p.Arg382Leu
p.Arg382Gln
p.Arg382Trp
p.Phe384Leu
p.Phe384Ser
p.Thr389Ile
p.Asn395Tyr
p.Arg423Gln
p.Asn425Tyr
p.His437Tyr
p.Ser611Asn
p.Phe621Val
p.Thr622Ile
p.Val637Leu
p.Val637Met
p.Tyr657Cys
















P40763 STAT3_HUMAN autoimmune disease, multisystem, infantile-onset, 1 p.Pro330Ser
p.Lys392Arg
p.Asn646Lys
p.Lys658Asn
p.Thr716Met