Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.I890T
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SCN5A

NM_000335.5:p.I890T

Associated Papers

SCN10A-short gene therapy to restore conduction and protect against malignant cardiac arrhythmias.

Wang J et al.

European Heart Journal, 2025

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

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Campuzano O et al.

Ebiomedicine, 2020

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

Dysfunctional Nav1.5 channels due to SCN5A mutations.

Han D et al.

Experimental Biology and Medicine (maywood, N.j.), 2018

Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.

Selga E et al.

Plos One, 2015

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

Juang JM et al.

Scientific Reports, 2014

24463578 (PubMed )
Supplement: srep03850-s1.pdf

A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.

Tarradas A et al.

Plos One, 2013

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