Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.E361G
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ACTG1

NM_001614.5:p.E361G

Associated Papers

Functional Characterization of Cardiac Actin Mutants Causing Hypertrophic (p.A295S) and Dilated Cardiomyopathy (p.R312H and p.E361G).

Hassoun R et al.

International Journal of Molecular Sciences, 2022

Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.

Hassoun R et al.

International Journal of Molecular Sciences, 2021

Actin Mutations and Their Role in Disease.

Parker F et al.

International Journal of Molecular Sciences, 2020

Using baculovirus/insect cell expressed recombinant actin to study the molecular pathogenesis of HCM caused by actin mutation A331P.

Bai F et al.

Journal of Molecular and Cellular Cardiology, 2014

Subdomain location of mutations in cardiac actin correlate with type of functional change.

Mundia MM et al.

Plos One, 2012

Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy.

Bookwalter CS et al.

The Journal of Biological Chemistry, 2006

Functional studies of yeast actin mutants corresponding to human cardiomyopathy mutations.

Wong WW et al.

Journal of Muscle Research and Cell Motility, 2001

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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."