Varaico: Literature-Extracted Genetic Variants

Gene:CALM3
Variant:p.N98S
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CALM3

NM_005184.4:p.N98S

Associated Papers

Calmodulin Mutations in Human Disease.

Hussey JW et al.

Channels (austin, Tex.), 2023

Infanticide vs. inherited cardiac arrhythmias.

Brohus M et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2021

Impact of arrhythmogenic calmodulin variants on small conductance Ca2+ -activated K+ (SK3) channels.

Saljic A et al.

Physiological Reports, 2019

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

Shaik NA et al.

Journal of Cellular Biochemistry, 2018

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 CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy.

Chaix MA et al.

Heartrhythm Case Reports, 2016

Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease.

Vassilakopoulou V et al.

Biochimica Et Biophysica Acta, 2015

Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes.

Limpitikul WB et al.

Journal of Molecular and Cellular Cardiology, 2014

Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants.

Hwang HS et al.

Circulation Research, 2014

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."