Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R53Q
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SCN5A

NM_000335.5:p.R53Q

Associated Papers

Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2, and SCN5A Compared With Patch-Clamp Functional Characterization.

Ye D et al.

Circulation. Genomic and Precision Medicine, 2024

Dual receptor-sites reveal the structural basis for hyperactivation of sodium channels by poison-dart toxin batrachotoxin.

Tonggu L et al.

Nature Communications, 2024

38485923 (PubMed )
Supplement: 41467_2024_45958_MOESM1_ESM.pdf

A comprehensive and universal approach for embryo testing in patients with different genetic disorders.

Zhang S et al.

Clinical and Translational Medicine, 2021

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

Brewer KR et al.

Frontiers in Pharmacology, 2020

Lidocaine attenuation testing: An in vivo investigation of putative LQT3-associated variants in the SCN5A-encoded sodium channel.

Anderson HN et al.

Heart Rhythm, 2017

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

Huang W et al.

Protein & Cell, 2017

QTc prolongation in patients with hearing loss: Electrocardiographic and genetic study.

Sanecka A et al.

Cardiology Journal, 2016

The UK10K project identifies rare variants in health and disease.

Walter K et al.

Nature, 2015

26367797 (PubMed )
Supplement: 41586_2015_BFnature14962_MOESM15_ESM.xlsx › 15
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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."