SWISSVAR
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1 protein found in SwissVar (15 variants)

with gene/protein name P62736

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)
P62736 ACTA_HUMAN diffuse and diverse vascular diseases, premature onset coronary artery disease, premature ischemic strokes and moyamoya disease
P62736 ACTA_HUMAN aortic aneurysm, familial thoracic 6 p.Arg39His
p.Asn117Thr
p.Arg118Gln
p.Tyr135His
p.Tyr145Cys
p.Arg149Cys
p.Val154Ala
p.Arg185Gln
p.Arg212Gln
p.Arg258His
p.Arg258Cys
p.Arg292Gly
p.Thr326Asn
p.Thr353Asn














P62736 ACTA_HUMAN moyamoya disease 5 p.Arg179His

P62736 ACTA_HUMAN multisystemic smooth muscle dysfunction syndrome p.Arg179His