Varaico: Literature-Extracted Genetic Variants

Gene:CASQ2
Variant:p.E177Q
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CASQ2

NM_001232.4:p.E177Q

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

Calsequestrin. Structure, function, and evolution.

Wang Q et al.

Cell Calcium, 2020

New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.

Jabbari J et al.

Circulation. Cardiovascular Genetics, 2013

24025405 (PubMed )
Supplement: 000118_supplemental_material.pdf

Catecholaminergic polymorphic ventricular tachycardia.

Leenhardt A et al.

Circulation. Arrhythmia and Electrophysiology, 2012

Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia.

Faggioni M et al.

Pediatric Cardiology, 2012

Calsequestrin 2 and arrhythmias.

Faggioni M et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2012

Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis.

Priori SG et al.

Circulation Research, 2011

Genetic variability of RyR2 and CASQ2 genes in an Asian population.

Wong CH et al.

Forensic Science International, 2009

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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."