Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A2
Variant:p.A57G
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SLC3A2

NM_001013251.3:p.A57G

Associated Papers

Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.

Gerritse M et al.

Pharmacology & Therapeutics, 2025

Cryo-EM structure of the folded-back state of human β-cardiac myosin.

Grinzato A et al.

Biorxiv : the Preprint Server for Biology, 2023

Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.

Yadav S et al.

Pflugers Archiv : European Journal of Physiology, 2019

New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis.

Takahara S et al.

Ebiomedicine, 2019

30898653 (PubMed )
Supplement: mmc1.docx

Single cardiac ventricular myosins are autonomous motors.

Wang Y et al.

Open Biology, 2018

Remodeling of the heart in hypertrophy in animal models with myosin essential light chain mutations.

Kazmierczak K et al.

Frontiers in Physiology, 2014

Discrete effects of A57G-myosin essential light chain mutation associated with familial hypertrophic cardiomyopathy.

Kazmierczak K et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2013

Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting.

Lossie J et al.

Cardiovascular Research, 2012

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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."