Varaico: Literature-Extracted Genetic Variants

Gene:CASQ2
Variant:p.K180R
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CASQ2

NM_001232.4:p.K180R

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 in children-incidence and trends in detection, presentation and management.

Fitzgerald N et al.

Archives of Disease in Childhood, 2025

Atrial cardiomyopathy resulting from loss of plakophilin-2 expression: Response to adrenergic stimulation and implications for the exercise response.

Phadke K et al.

The Journal of Physiology, 2025

Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2.

Ranpura GN et al.

Stem Cell Research, 2025

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

d'Apolito M et al.

Genes, 2024

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

Askarinejad A et al.

Gene, 2024

Human Genetics of Cardiac Arrhythmias.

Schulze-Bahr E et al.

Advances in Experimental Medicine and Biology, 2024

The Structural-Functional Crosstalk of the Calsequestrin System: Insights and Pathological Implications.

Marabelli C et al.

Biomolecules, 2023

New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.

Sharma AK et al.

Scientific Reports, 2023

Gene Therapy for Catecholaminergic Polymorphic Ventricular Tachycardia.

Pérez PR et al.

Heart, Lung & Circulation, 2023

Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy.

Zaffran S et al.

International Journal of Molecular Sciences, 2023

Impaired Dynamic Sarcoplasmic Reticulum Ca Buffering in Autosomal Dominant CPVT2.

Wleklinski MJ et al.

Circulation Research, 2022

Research Progress and Forensic Application of Postmortem Genetic Testing in Hereditary Cardiac Diseases.

Dong YM et al.

Fa Yi Xue Za Zhi, 2022

Animal Models to Study Cardiac Arrhythmias.

Blackwell DJ et al.

Circulation Research, 2022

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

Sibbles ET et al.

Biophysical Reviews, 2022

Precision Medicine in Catecholaminergic Polymorphic Ventricular Tachycardia: JACC Focus Seminar 5/5.

Priori SG et al.

Journal of the American College of Cardiology, 2021

Advances in the Molecular Genetics of Catecholaminergic Polymorphic Ventricular Tachycardia.

Song J et al.

Frontiers in Pharmacology, 2021

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

Titus EW et al.

Nature Structural & Molecular Biology, 2020

Phylogenetic and biochemical analysis of calsequestrin structure and association of its variants with cardiac disorders.

Wang Q et al.

Scientific Reports, 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

Molecular and tissue mechanisms of catecholaminergic polymorphic ventricular tachycardia.

Wleklinski MJ et al.

The Journal of Physiology, 2020

CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia.

Li Q et al.

Molecular Genetics & Genomic Medicine, 2019

Characterization of the first induced pluripotent stem cell line generated from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia due to a heterozygous mutation in cardiac calsequestrin-2.

Ross S et al.

Stem Cell Research, 2019

Genetic causes of sudden cardiac death in the young.

Mazzanti A et al.

Current Opinion in Cardiology, 2017

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.

Gray B et al.

Heart Rhythm, 2016

The link between abnormalities of calcium handling proteins and catecholaminergic polymorphic ventricular tachycardia.

Lin DJ et al.

Tzu Chi Medical Journal, 0

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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."