Varaico: Literature-Extracted Genetic Variants

Gene:CALM1
Variant:p.E140G
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CALM1

NM_006888.6:p.E140G

Associated Papers

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.

Hoang HD et al.

Human Molecular Genetics, 2025

The mechanism of LQTS related CaM mutation E141G interfering with CaV1.2 channels function through its C-lobe.

Zhang C et al.

Journal of Physiology and Biochemistry, 2025

Human calmodulin mutations cause arrhythmia and affect neuronal function in C. elegans.

Jensen HH et al.

Human Molecular Genetics, 2023

Calmodulin variant E140G associated with long QT syndrome impairs CaMKIIδ autophosphorylation and L-type calcium channel inactivation.

Prakash O et al.

The Journal of Biological Chemistry, 2023

Calmodulin Mutations Associated with Heart Arrhythmia: A Status Report.

Chazin WJ et al.

International Journal of Molecular Sciences, 2020

Human Calmodulin Mutations.

Jensen HH et al.

Frontiers in Molecular Neuroscience, 2018

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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."