Varaico: Literature-Extracted Genetic Variants

Gene:CALM2
Variant:p.D132H
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CALM2

NM_001743.6:p.D132H

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

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

Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation.

Zhang W et al.

Frontiers in Pediatrics, 2022

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

Genetic Mosaicism in Calmodulinopathy.

Wren LM et al.

Circulation. Genomic and Precision Medicine, 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

Long QT Syndrome and Sinus Bradycardia-A Mini Review.

Wilders R et al.

Frontiers in Cardiovascular 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

Calmodulinopathy: Functional Effects of CALM Mutations and Their Relationship With Clinical Phenotypes.

Badone B et al.

Frontiers in Cardiovascular Medicine, 2018

Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.

Pipilas DC et al.

Heart Rhythm, 2016

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."