SWISSVAR
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1 protein found in SwissVar (32 variants)

with gene/protein name P51531

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)
P51531 SMCA2_HUMAN nicolaides-baraitser syndrome p.Gly752Ala
p.Lys755Arg
p.Thr756Ile
p.Asp851His
p.Glu852Asp
p.Glu852Lys
p.His854Arg
p.His854Asn
p.Arg855Gly
p.Arg855Gln
p.Thr880Ile
p.Gly881Val
p.Gly881Arg
p.Pro883Leu
p.His939Tyr
p.Leu946Ser
p.Leu946Phe
p.Arg1105Pro
p.Arg1105Cys
p.Leu1135Pro
p.Ser1146Arg
p.Asp1158Val
p.Arg1159Leu
p.Arg1159Gln
p.Arg1159Gly
p.Arg1162His
p.Ala1188Pro
p.Ala1201Val
p.Gly1202Cys
p.Asp1205Gly
p.Arg1213Trp
p.Gln1241Glu
































P51531 SMCA2_HUMAN schizophrenia