Varaico: Literature-Extracted Genetic Variants

Gene:CASQ2
Variant:p.E21delFs
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CASQ2

NM_001232.4:p.E21delFs

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

Catecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene.

Askarinejad A et al.

Gene, 2024

The function and regulation of calsequestrin-2: implications in calcium-mediated arrhythmias.

Sibbles ET et al.

Biophysical Reviews, 2022

Calsequestrin. Structure, function, and evolution.

Wang Q et al.

Cell Calcium, 2020

CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia.

Li Q et al.

Molecular Genetics & Genomic Medicine, 2019

Catecholaminergic polymorphic ventricular tachycardia.

Leenhardt A et al.

Circulation. Arrhythmia and Electrophysiology, 2012

Calsequestrin 2 and arrhythmias.

Faggioni M et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2012

The cardiac conduction system.

Park DS et al.

Circulation, 2011

Cardiac calsequestrin: the new kid on the block in arrhythmias.

Chopra N et al.

Journal of Cardiovascular Electrophysiology, 2009

Ryanodine receptor and calsequestrin in arrhythmogenesis: what we have learnt from genetic diseases and transgenic mice.

Liu N et al.

Journal of Molecular and Cellular Cardiology, 2009

Chain-reaction Ca(2+) signaling in the heart.

Györke S et al.

The Journal of Clinical Investigation, 2007

Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights.

Kontula K et al.

Cardiovascular Research, 2005

Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia.

Postma AV et al.

Circulation Research, 2002

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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."