Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.R256H
Back to variants list

ACTA2

NM_001613.4:p.R256H

Associated Papers

Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.

Burger J et al.

Human Molecular Genetics, 2021

Regulation of microRNA expression in vascular smooth muscle by MRTF-A and actin polymerization.

Alajbegovic A et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2017

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

Thoracic aortic aneurysm (TAAD)-causing mutation in actin affects formin regulation of polymerization.

Malloy LE et al.

The Journal of Biological Chemistry, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."