Varaico: Literature-Extracted Genetic Variants

Gene:CALM1
Variant:p.E105A
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CALM1

NM_006888.6:p.E105A

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

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

Arrhythmia-associated calmodulin variants interact with KCNQ1 to confer aberrant membrane trafficking and function.

Kang PW et al.

Pnas Nexus, 2023

Arrhythmia-Associated Calmodulin E105A Mutation Alters the Binding Affinity of CaM to a Ryanodine Receptor 2 CaM-Binding Pocket.

Thanassoulas A et al.

International Journal of Molecular Sciences, 2023

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.

Crotti L et al.

European Heart Journal, 2023

NaV1.2 EFL domain allosterically enhances Ca2+ binding to sites I and II of WT and pathogenic calmodulin mutants bound to the channel CTD.

Mahling R et al.

Structure (london, England : 1993), 2021

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

Peracchia C

International Journal of Molecular Sciences, 2021

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

Crotti L et al.

European Heart Journal, 2019

Arrhythmogenic calmodulin E105A mutation alters cardiac RyR2 regulation leading to cardiac dysfunction in zebrafish.

Da'as SI et al.

Annals of the New York Academy of Sciences, 2019

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

A novel de novo calmodulin mutation in a 6-year-old boy who experienced an aborted cardiac arrest.

Takahashi K et al.

Heartrhythm Case Reports, 2017

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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."