Varaico: Literature-Extracted Genetic Variants

Gene:CALM2
Variant:p.E141G
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CALM2

NM_001743.6:p.E141G

Associated Papers

The mechanism of LQTS related CaM mutation E141G interfering with CaV1.2 channels function through its C-lobe.

Zhang C et al.

Journal of Physiology and Biochemistry, 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

Single Construct Suppression and Replacement Gene Therapy for the Treatment of All CALM1-, CALM2-, and CALM3-Mediated Arrhythmia Disorders.

Hamrick SK et al.

Circulation. Arrhythmia and Electrophysiology, 2024

Calmodulin Mutations in Human Disease.

Hussey JW et al.

Channels (austin, Tex.), 2023

Long QT syndrome-associated calmodulin variants disrupt the activity of the slowly activating delayed rectifier potassium channel.

McCormick L et al.

The Journal of Physiology, 2023

37428651 (PubMed )
Supplement: TJP-601-3739-s001.pdf

Complex Arrhythmia Syndrome in a Knock-In Mouse Model Carrier of the N98S Calm1 Mutation.

Tsai WC et al.

Circulation, 2020

The LQT-associated calmodulin mutant E141G induces disturbed Ca2+-dependent binding and a flickering gating mode of the CaV1.2 channel.

Su J et al.

American Journal of Physiology. Cell Physiology, 2020

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

Arrhythmia mutations in calmodulin cause conformational changes that affect interactions with the cardiac voltage-gated calcium channel.

Wang K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

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

Shaik NA et al.

Journal of Cellular Biochemistry, 2018

Long QT Syndrome and Sinus Bradycardia-A Mini Review.

Wilders R et al.

Frontiers in Cardiovascular Medicine, 2018

30123799 (PubMed )
Supplement: Data_Sheet_1.PDF

Human Calmodulin Mutations.

Jensen HH et al.

Frontiers in Molecular Neuroscience, 2018

New Insights Into the Genetic Basis of Inherited Arrhythmia Syndromes.

Gray B et al.

Circulation. Cardiovascular Genetics, 2016

Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.

Gomez-Hurtado N et al.

Circulation. Arrhythmia and Electrophysiology, 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

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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."