SWISSVAR
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1 protein found in SwissVar (23 variants)

with gene/protein name Q14683

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)
Q14683 SMC1A_HUMAN cornelia de lange syndrome 2 p.Phe133Val
p.Glu141Lys
p.Arg196His
p.Arg398Gln
p.Arg398Gly
p.Glu493Ala
p.Arg496His
p.Arg496Cys
p.Val651Met
p.Arg693Gln
p.Arg693Gly
p.Arg711Trp
p.Arg711Gln
p.Cys781Phe
p.Ile784Thr
p.Arg790Gln
p.Arg816Gly
p.Arg1049Gln
p.Tyr1085Cys
p.Phe1122Leu
p.Arg1123Trp
p.Asn1166Thr
p.Leu1189Phe