Varaico: Literature-Extracted Genetic Variants

Gene:CALM2
Variant:p.E105A
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CALM2

NM_001743.6:p.E105A

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

Arrhythmia-Associated Calmodulin E105A Mutation Alters the Binding Affinity of CaM to a Ryanodine Receptor 2 CaM-Binding Pocket.

Thanassoulas A et al.

International Journal of Molecular Sciences, 2023

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

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

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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."