Varaico: Literature-Extracted Genetic Variants

Gene:CALM3
Variant:p.D96V
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CALM3

NM_005184.4:p.D96V

Associated Papers

Beyond the blueprint: decoding calmodulinopathy-a case report showcasing the utility of multifaceted treatments.

Kakarla S et al.

European Heart Journal. Case Reports, 2025

Calmodulin Mutations in Human Disease.

Hussey JW et al.

Channels (austin, Tex.), 2023

Territory-Wide Chinese Cohort of Long QT Syndrome: Random Survival Forest and Cox Analyses.

Tse G et al.

Frontiers in Cardiovascular Medicine, 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

Human Calmodulin Mutations.

Jensen HH et al.

Frontiers in Molecular Neuroscience, 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 CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.

Gomez-Hurtado N et al.

Circulation. Arrhythmia and Electrophysiology, 2016

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

Chaix MA et al.

Heartrhythm Case Reports, 2016

28491681 (PubMed )
Supplement: mmc2.docx

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

Calmodulin mutations associated with recurrent cardiac arrest in infants.

Crotti L et al.

Circulation, 2013

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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."