Varaico: Literature-Extracted Genetic Variants

Gene:CALM2
Variant:p.D134H
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CALM2

NM_001743.6:p.D134H

Associated Papers

Disrupted binding dynamics of the CaMD130G mutant to Cav1.2 channels: Implications for long QT syndrome pathogenesis.

Zhang X et al.

European Journal of Pharmacology, 2025

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

Da'as SI et al.

Journal of Cellular Biochemistry, 2024

Calmodulin Mutations in Human Disease.

Hussey JW et al.

Channels (austin, Tex.), 2023

Life-threatening arrhythmogenic CaM mutations disrupt CaM binding to a distinct RyR2 CaM-binding pocket.

Thanassoulas A et al.

Biochimica Et Biophysica Acta. General Subjects, 2023

Precision medicine for long QT syndrome: patient-specific iPSCs take the lead.

Yu Y et al.

Expert Reviews in Molecular Medicine, 2023

Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?

Peracchia C

International Journal of Molecular Sciences, 2021

Diminished inhibition and facilitated activation of RyR2-mediated Ca2+ release is a common defect of arrhythmogenic calmodulin mutations.

Søndergaard MT et al.

The Febs Journal, 2019

Long QT syndrome with a de novo CALM2 mutation in a 4-year-old boy.

Fujita S et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2019

Protein phenotype diagnosis of autosomal dominant calmodulin mutations causing irregular heart rhythms.

Shaik NA et al.

Journal of Cellular Biochemistry, 2018

Novel Association of a De Novo CALM2 Mutation With Long QT Syndrome and Hypertrophic Cardiomyopathy.

Zahavich L et al.

Circulation. Genomic and Precision Medicine, 2018

Human Calmodulin Mutations.

Jensen HH et al.

Frontiers in Molecular Neuroscience, 2018

Calmodulinopathy: A Novel, Life-Threatening Clinical Entity Affecting the Young.

Kotta MC et al.

Frontiers in Cardiovascular Medicine, 2018

Calcium Revisited: New Insights Into the Molecular Basis of Long-QT Syndrome.

Giudicessi JR et al.

Circulation. Arrhythmia and Electrophysiology, 2016

Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy.

Chaix MA et al.

Heartrhythm Case Reports, 2016

Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.

Boczek NJ et al.

Circulation. Cardiovascular Genetics, 2016

Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes.

Limpitikul WB et al.

Journal of Molecular and Cellular Cardiology, 2014

Novel calmodulin mutations associated with congenital arrhythmia susceptibility.

Makita N et al.

Circulation. Cardiovascular Genetics, 2014

Calmodulinopathy in inherited arrhythmia syndromes.

Tsai WC 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."