Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.Q573E
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SCN5A

NM_000335.5:p.Q573E

Associated Papers

Functional reassessment of Nav1.5 T559A reveals loss-of-function in a variant commonly used as wild type.

Melgari D et al.

American Journal of Physiology. Cell Physiology, 2025

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Huang W et al.

Protein & Cell, 2017

The multi-faceted aspects of the complex cardiac Nav1.5 protein in membrane function and pathophysiology.

Detta N et al.

Biochimica Et Biophysica Acta, 2015

Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.

Leong IU et al.

Bmc Medical Genetics, 2015

25967940 (PubMed )
Supplement: 12881_2015_176_MOESM1_ESM.xlsx › EVERYTHING

Regulation of the cardiac Na+ channel NaV1.5 by post-translational modifications.

Marionneau C et al.

Journal of Molecular and Cellular Cardiology, 2015

CaMKII-dependent regulation of cardiac Na(+) homeostasis.

Grandi E et al.

Frontiers in Pharmacology, 2014

Post-translational modifications of the cardiac Na channel: contribution of CaMKII-dependent phosphorylation to acquired arrhythmias.

Herren AW et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2013

Ca2+/calmodulin-dependent protein kinase II-based regulation of voltage-gated Na+ channel in cardiac disease.

Koval OM et al.

Circulation, 2012

Na(+) channel I-II loop mediates parallel genetic and phosphorylation-dependent gating changes.

Bers DM et al.

Circulation, 2012

SCN5A channelopathies--an update on mutations and mechanisms.

Zimmer T et al.

Progress in Biophysics and Molecular Biology, 0

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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."