Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.Y145C
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ACTA2

NM_001613.4:p.Y145C

Associated Papers

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.

Hornbeck PV et al.

Nucleic Acids Research, 2019

30445427 (PubMed )
Supplement: gky1159_supplemental_files.xlsx › SupplT1

Molecular Regulation of Arterial Aneurysms: Role of Actin Dynamics and microRNAs in Vascular Smooth Muscle.

Alajbegovic A et al.

Frontiers in Physiology, 2017

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.

Hoffjan S et al.

European Journal of Human Genetics : Ejhg, 2011

Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2).

Disabella E et al.

Heart (british Cardiac Society), 2011

Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).

Morisaki H et al.

Human Mutation, 2009

α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies.

Yuan SM

Brazilian Journal of Cardiovascular Surgery, 0

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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."