Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.M305L
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ACTG1

NM_001614.5:p.M305L

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

35457283 (PubMed )
Supplement: ijms-23-04465-s001.zip › ijms-1693968-supplementary.pdf

A role for actin flexibility in thin filament-mediated contractile regulation and myopathy.

Viswanathan MC et al.

Nature Communications, 2020

32415060 (PubMed )
Supplement: 41467_2020_15922_MOESM1_ESM.pdf

Classifying Cardiac Actin Mutations Associated With Hypertrophic Cardiomyopathy.

Despond EA et al.

Frontiers in Physiology, 2018

Cryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolution.

von der Ecken J et al.

Nature, 2016

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

Regulation of actin by ion-linked equilibria.

Kang H et al.

Biophysical Journal, 2013

A tumorigenic actin mutant alters fibroblast morphology and multicellular assembly properties.

Blache U et al.

Cytoskeleton (hoboken, N.j.), 2013

Functional characterization of the human α-cardiac actin mutations Y166C and M305L involved in hypertrophic cardiomyopathy.

Müller M et al.

Cellular and Molecular Life Sciences : Cmls, 2012

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."