Varaico: Literature-Extracted Genetic Variants

Gene:CASQ2
Variant:p.D63E
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CASQ2

NM_001232.4:p.D63E

Associated Papers

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

Askarinejad A et al.

Gene, 2024

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

Walsh R et al.

European Heart Journal, 2017

28082330 (PubMed )
Supplement: ehw603_supplementary_tables_s1_s5_s7.xlsx › Table_S5

Calcium Signaling and Cardiac Arrhythmias.

Landstrom AP et al.

Circulation Research, 2017

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

Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins.

Landstrom AP et al.

Current Molecular Medicine, 2012

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

Chopra N et al.

Journal of Cardiovascular Electrophysiology, 2009

Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.

Chiu C et al.

Journal of Molecular and Cellular Cardiology, 2007

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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."