Varaico: Literature-Extracted Genetic Variants

Gene:CALM3
Variant:p.E141G
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CALM3

NM_005184.4: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

Calmodulin Mutations in Human Disease.

Hussey JW et al.

Channels (austin, Tex.), 2023

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.

Crotti L et al.

European Heart Journal, 2023

CALM1 rs3179089 polymorphism might contribute to coronary artery disease susceptibility in Chinese male: a case-control study.

Huang J et al.

Genes & Genomics, 2022

Alterations in calmodulin-cardiac ryanodine receptor molecular recognition in congenital arrhythmias.

Dal Cortivo G et al.

Cellular and Molecular Life Sciences : Cmls, 2022

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

Calmodulinopathies: throwing back the veil on the newest life-threatening genetic arrhythmia syndrome.

Etheridge SP et al.

Current Opinion in Cardiology, 2021

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

Tsai WC et al.

Circulation, 2020

Role of cardiac ryanodine receptor calmodulin-binding domains in mediating the action of arrhythmogenic calmodulin N-domain mutation N54I.

Søndergaard MT et al.

The Febs Journal, 2020

The arrhythmogenic N53I variant subtly changes the structure and dynamics in the calmodulin N-terminal domain, altering its interaction with the cardiac ryanodine receptor.

Holt C et al.

The Journal of Biological Chemistry, 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

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

Genetic causes of sudden cardiac death in the young.

Mazzanti A et al.

Current Opinion in Cardiology, 2017

The Arrhythmogenic Calmodulin p.Phe142Leu Mutation Impairs C-domain Ca2+ Binding but Not Calmodulin-dependent Inhibition of the Cardiac Ryanodine Receptor.

Søndergaard MT et al.

The Journal of Biological Chemistry, 2017

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

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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."