Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.E654K
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SCN5A

NM_000335.5:p.E654K

Associated Papers

A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand.

Walsh R et al.

Circulation, 2025

39391988 (PubMed )
Supplement: cir-151-31-s003.xlsx › Table_S3

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S9

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx

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

Brewer KR et al.

Frontiers in Pharmacology, 2020

Investigating the Genetic Causes of Sudden Unexpected Death in Children Through Targeted Next-Generation Sequencing Analysis.

Dewar LJ et al.

Circulation. Cardiovascular Genetics, 2017

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

Huang W et al.

Protein & Cell, 2017

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Jamuar SS et al.

Ebiomedicine, 2016

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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."