Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.Y166C
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ACTB

NM_001101.5:p.Y166C

Associated Papers

Cryo-EM structures of cardiac muscle α-actin mutants M305L and A331P give insights into the structural mechanisms of hypertrophic cardiomyopathy.

Huang HL et al.

European Journal of Cell Biology, 2024

Actin Mutations and Their Role in Disease.

Parker F et al.

International Journal of Molecular Sciences, 2020

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

Molecular mechanisms of disease-related human β-actin mutations p.R183W and p.E364K.

Hundt N et al.

The Febs Journal, 2014

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

Blache U et al.

Cytoskeleton (hoboken, N.j.), 2013

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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."