Varaico: Literature-Extracted Genetic Variants

Gene:CALM3
Variant:p.Q136P
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CALM3

NM_005184.4:p.Q136P

Associated Papers

Divergent Biochemical Properties and Disparate Impact of Arrhythmogenic Calmodulin Mutations on Zebrafish Cardiac Function.

Da'as SI et al.

Journal of Cellular Biochemistry, 2024

Calmodulin Mutations in Human Disease.

Hussey JW et al.

Channels (austin, Tex.), 2023

Life-threatening arrhythmogenic CaM mutations disrupt CaM binding to a distinct RyR2 CaM-binding pocket.

Thanassoulas A et al.

Biochimica Et Biophysica Acta. General Subjects, 2023

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

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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."