Varaico: Literature-Extracted Genetic Variants

Gene:CALM3
Variant:p.F142L
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CALM3

NM_005184.4:p.F142L

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

Convergence on CaMK4: A Key Modulator of Autism-Associated Signaling Pathways in Neurons.

Kaiser J et al.

Biological Psychiatry, 2025

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

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

Diminished inhibition and facilitated activation of RyR2-mediated Ca2+ release is a common defect of arrhythmogenic calmodulin mutations.

Søndergaard MT et al.

The Febs Journal, 2019

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

Calmodulinopathy: A Novel, Life-Threatening Clinical Entity Affecting the Young.

Kotta MC et al.

Frontiers in Cardiovascular Medicine, 2018

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

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

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."