Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.P637L
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SCN5A

NM_000335.5:p.P637L

Associated Papers

In Vivo Base Editing of Scn5a Rescues Type 3 Long QT Syndrome in Mice.

Qi M et al.

Circulation, 2024

37965733 (PubMed )
Supplement: circ_circulationaha-2023-065624_supp1.docx

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

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Tester DJ et al.

Heart Rhythm, 2005

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."