Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.W88R
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ACTA2

NM_001613.4:p.W88R

Associated Papers

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin.

Lu H et al.

Proceedings of the National Academy of Sciences of the United States of America, 2015

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.

Regalado ES et al.

Circulation. Cardiovascular Genetics, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."