Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.N53I
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RYR1

NM_000540.3:p.N53I

Associated Papers

Ionic displacement of Ca2+ by Pb2+ in calmodulin is affected by arrhythmia-associated mutations.

Marino V et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2023

CPVT-associated calmodulin variants N53I and A102V dysregulate Ca2+ signalling via different mechanisms.

Prakash O et al.

Journal of Cell Science, 2022

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 Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+ Release.

Søndergaard MT et al.

The Journal of Biological Chemistry, 2015

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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."