Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.T1069M
Back to variants list

SCN5A

NM_000335.5:p.T1069M

Associated Papers

Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.

Bui QM et al.

Future Cardiology, 2025

40200748 (PubMed )
Supplement: IFCA_A_2484128_SM1099.xlsx › Sheet1

Somatic mutations associate with clonal expansion of CD8+ T cells.

Lundgren S et al.

Science Advances, 2024

38848368 (PubMed )
Supplement: sciadv.adj0787_tables_s1_to_s11.zip › adj0787_Tables_S1_to_S11.xlsx › S5

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

Somatic mutations and T-cell clonality in patients with immunodeficiency.

Savola P et al.

Haematologica, 2020

33256375 (PubMed )
Supplement: 2019_220889_SAVOLA_SUPPL.pdf

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Loussouarn G et al.

Frontiers in Pharmacology, 2015

Allelic variants of SCN5A and risk of sudden cardiac arrest in patients with coronary artery disease.

Stecker EC et al.

Heart Rhythm, 2006

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."