Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.A551T
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SCN5A

NM_000335.5:p.A551T

Associated Papers

Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.

Akbari Ahangar A et al.

Iscience, 2024

39286500 (PubMed )
Supplement: mmc1.pdf

Biophysical mechanisms of myocardium sodium channelopathies.

Zaytseva AK et al.

Pflugers Archiv : European Journal of Physiology, 2024

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf

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 › S13

Genome-wide association study of antipsychotic-induced sinus bradycardia in Chinese schizophrenia patients.

Weng S et al.

Plos One, 2021

33914752 (PubMed )
Supplement: pone.0249997.s006.xlsx › Pubmed

Genetic Characteristics and Transcriptional Regulation of Sodium Channel Related Genes in Chinese Patients With Brugada Syndrome.

Zhang Z et al.

Frontiers in Cardiovascular Medicine, 2021

Gender difference in clinical and genetic characteristics of Brugada syndrome: SADS-TW BrS registry.

Chen CJ et al.

Qjm : Monthly Journal of the Association of Physicians, 2019

Experimental Models of Brugada syndrome.

Sendfeld F et al.

International Journal of Molecular Sciences, 2019

Predicting changes to INa from missense mutations in human SCN5A.

Clerx M et al.

Scientific Reports, 2018

30143662 (PubMed )
Supplement: 41598_2018_30577_MOESM1_ESM.pdf

Unique clinical characteristics and SCN5A mutations in patients with Brugada syndrome in Taiwan.

Juang JM et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2015

Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome.

Juang JM et al.

Scientific Reports, 2014

Characterization of a novel Nav1.5 channel mutation, A551T, associated with Brugada syndrome.

Chiang KC et al.

Journal of Biomedical Science, 2009

Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome.

Turillazzi E et al.

Virchows Archiv : an International Journal of Pathology, 2008

Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.

Lai LP et al.

Journal of Human Genetics, 2005

SCN5A channelopathies--an update on mutations and mechanisms.

Zimmer T et al.

Progress in Biophysics and Molecular Biology, 0

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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."