Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.A230V
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ACTG1

NM_001614.5:p.A230V

Associated Papers

Hypertrophic cardiomyopathy: insights into pathophysiology and novel therapeutic strategies from clinical studies.

Olalekan SO et al.

The Egyptian Heart Journal : (ehj) : Official Bulletin of the Egyptian Society of Cardiology, 2025

The phospho-landscape of the survival of motoneuron protein (SMN) protein: relevance for spinal muscular atrophy (SMA).

Detering NT et al.

Cellular and Molecular Life Sciences : Cmls, 2022

Classifying Cardiac Actin Mutations Associated With Hypertrophic Cardiomyopathy.

Despond EA et al.

Frontiers in Physiology, 2018

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

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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."