Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.A230V
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ACTC1

NM_005159.5:p.A230V

Associated Papers

Hypertrophic Cardiomyopathy: Genes and Mechanisms.

Chen J et al.

Frontiers in Bioscience (landmark Edition), 2025

Isogenic Pairs of hiPSC-CMs with Hypertrophic Cardiomyopathy/LVNC-Associated ACTC1 E99K Mutation Unveil Differential Functional Deficits.

Smith JGW et al.

Stem Cell Reports, 2018

30392975 (PubMed )
Supplement: mmc2.pdf

Classifying Cardiac Actin Mutations Associated With Hypertrophic Cardiomyopathy.

Despond EA et al.

Frontiers in Physiology, 2018

The immediate effect of HCM causing actin mutants E99K and A230V on actin-Tm-myosin interaction in thin-filament reconstituted myocardium.

Bai F et al.

Journal of Molecular and Cellular Cardiology, 2015

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

Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies.

Chow ML et al.

Archives of Biochemistry and Biophysics, 2014

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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."