Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.H88Y
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ACTG1

NM_001614.5:p.H88Y

Associated Papers

Asp56 in actin is critical for the full activity of the amino acid starvation-responsive kinase Gcn2.

Ramesh R et al.

Febs Letters, 2021

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

Actin mutations that show suppression with fimbrin mutations identify a likely fimbrin-binding site on actin.

Honts JE et al.

The Journal of Cell Biology, 1994

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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."