Varaico: Literature-Extracted Genetic Variants

Gene:CALM2
Variant:p.E46K
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CALM2

NM_001743.6:p.E46K

Associated Papers

Catecholaminergic polymorphic ventricular tachycardia: A narrative review of recent advances in genetics, mechanisms, diagnosis, and treatment.

Luo S et al.

Asian Heart Journal, 2025

Genetics, manifestations, and management of catecholaminergic polymorphic ventricular tachycardia.

Desai S et al.

Current Opinion in Cardiology, 2025

Catecholaminergic Polymorphic Ventricular Tachycardia: Advancing From Molecular Insights to Preclinical Models.

Schneider L et al.

Journal of the American Heart Association, 2025

Convergence on CaMK4: A Key Modulator of Autism-Associated Signaling Pathways in Neurons.

Kaiser J et al.

Biological Psychiatry, 2025

The Role of Human-Induced Pluripotent Stem Cells in Studying Cardiac Channelopathies.

Begovic M et al.

International Journal of Molecular Sciences, 2024

Divergent Biochemical Properties and Disparate Impact of Arrhythmogenic Calmodulin Mutations on Zebrafish Cardiac Function.

Da'as SI et al.

Journal of Cellular Biochemistry, 2024

A rare case report of catecholaminergic polymorphic ventricular tachycardia with an uncommon CALM2 mutation.

Ding KR et al.

European Heart Journal. Case Reports, 2024

Calmodulinopathy in Japanese Children - Their Cardiac Phenotypes Are Severe and Show Early Onset in Fetal Life and Infancy.

Fukuyama M et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2023

Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.

Josephs KS et al.

Genome Medicine, 2023

37872640 (PubMed )
Supplement: 13073_2023_1246_MOESM2_ESM.docx

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.

Crotti L et al.

European Heart Journal, 2023

Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.

Josephs KS et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37066275 (PubMed )
Supplement: media-4.docx

Novel Calmodulin Variant p.E46K Associated With Severe Catecholaminergic Polymorphic Ventricular Tachycardia Produces Robust Arrhythmogenicity in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Gao J et al.

Circulation. Arrhythmia and Electrophysiology, 2023

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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."