SWISSVAR
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1 protein found in SwissVar (8 variants)

with gene/protein name O43541

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)
O43541 SMAD6_HUMAN aortic valve disease 2 p.Pro415Leu
p.Cys484Phe


O43541 SMAD6_HUMAN craniosynostosis 7 p.Glu287Lys
p.Thr306Ala
p.Pro323Leu
p.Gly390Cys
p.Arg465Cys
p.Ile490Thr