Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.I397T
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SCN5A

NM_000335.5:p.I397T

Associated Papers

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

Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death.

Soh MS et al.

Epilepsia, 2022

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

Brewer KR et al.

Frontiers in Pharmacology, 2020

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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."