Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.E161Q
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SCN5A

NM_000335.5:p.E161Q

Associated Papers

Charge Reversal of the Uppermost Arginine in Sliding Helix S4-I Affects Gating of Cardiac Sodium Channel.

Kulichik OE et al.

International Journal of Molecular Sciences, 2025

Single-cell transcriptomics trajectory and molecular convergence of clinically relevant mutations in Brugada syndrome.

Tambi R et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2021

Roles for Countercharge in the Voltage Sensor Domain of Ion Channels.

Groome JR et al.

Frontiers in Pharmacology, 2020

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Kapplinger JD et al.

Heart Rhythm, 2010

Molecular interactions of the gating modifier toxin ProTx-II with NaV 1.5: implied existence of a novel toxin binding site coupled to activation.

Smith JJ et al.

The Journal of Biological Chemistry, 2007

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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."