Varaico: Literature-Extracted Genetic Variants

Gene:CALM1
Variant:p.D132V
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CALM1

NM_006888.6:p.D132V

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

Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review.

Sun Q et al.

Molecular Genetics & Genomic Medicine, 2024

Calmodulin Mutations in Human Disease.

Hussey JW et al.

Channels (austin, Tex.), 2023

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

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.

Crotti L et al.

European Heart Journal, 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

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.

Crotti L et al.

European Heart Journal, 2019

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

Shaik NA et al.

Journal of Cellular Biochemistry, 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."