Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.G1040R
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SCN5A

NM_000335.5:p.G1040R

Associated Papers

Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants.

Martínez-Barrios E et al.

International Journal of Molecular Sciences, 2026

41596527 (PubMed )
Supplement: ijms-27-00880-s001.zip › ijms-4088130-supplementary.xlsx › Table_S1

Generation of an induced pluripotent stem cell line from a Brugada syndrome patient carrying SCN5A/c.3118G>C mutation.

Fan H et al.

Stem Cell Research, 2024

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4

Novel SCN5A variants identified in a group of Iranian Brugada syndrome patients.

Ghaffari T et al.

Functional & Integrative Genomics, 2021

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S3

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Kapplinger JD et al.

Heart Rhythm, 2010

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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."