Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.A665S
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SCN5A

NM_000335.5:p.A665S

Associated Papers

SCN5A missense variants and their contribution to deaths in Sudden Unexplained Nocturnal Death Syndrome (SUNDS).

Chaloemthanetphong A et al.

Forensic Science International. Genetics, 2025

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

A diverse ancestrally-matched reference panel increases genotype imputation accuracy in a underrepresented population.

Mauleekoonphairoj J et al.

Scientific Reports, 2023

37524845 (PubMed )
Supplement: 41598_2023_39429_MOESM2_ESM.xlsx › Supplementary_table_2

Shared Genetic Etiology of Primary Dilated Cardiomyopathy and Ischemic Dilated Cardiomyopathy.

Sun Y et al.

Frontiers in Cardiovascular Medicine, 2021

37273834 (PubMed )
Supplement: Data_Sheet_2.xlsx › Sheet1

The role of sodium channels in sudden unexpected death in pediatrics.

Rochtus AM et al.

Molecular Genetics & Genomic Medicine, 2020

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

Brewer KR et al.

Frontiers in Pharmacology, 2020

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

Lieve KV et al.

Genetic Testing and Molecular Biomarkers, 2013

Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing.

Wei X et al.

Plos One, 2011

22216297 (PubMed )
Supplement: pone.0029500.s005.xlsx › Sheet1
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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."