Varaico: Literature-Extracted Genetic Variants

Gene:CASQ2
Variant:p.S173I
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CASQ2

NM_001232.4:p.S173I

Associated Papers

The emerging role of calsequestrin 2: from calcium sensor and modulator to arrhythmia driver.

Rajha HE et al.

Journal of Physiology and Biochemistry, 2026

A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome.

Ni M et al.

Jama, 2024

Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome.

d'Apolito M et al.

Genes, 2024

Impaired Dynamic Sarcoplasmic Reticulum Ca Buffering in Autosomal Dominant CPVT2.

Wleklinski MJ et al.

Circulation Research, 2022

The structure of a calsequestrin filament reveals mechanisms of familial arrhythmia.

Titus EW et al.

Nature Structural & Molecular Biology, 2020

An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia.

Ng K et al.

Circulation, 2020

Calsequestrin. Structure, function, and evolution.

Wang Q et al.

Cell Calcium, 2020

Gene therapy for inherited arrhythmias.

Bezzerides VJ et al.

Cardiovascular Research, 2020

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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."