Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.T559I
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SCN5A

NM_000335.5:p.T559I

Associated Papers

Functional reassessment of Nav1.5 T559A reveals loss-of-function in a variant commonly used as wild type.

Melgari D et al.

American Journal of Physiology. Cell Physiology, 2025

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3

Resolving the phylogenetic origin of glioblastoma via multifocal genomic analysis of pre-treatment and treatment-resistant autopsy specimens.

Brastianos PK et al.

Npj Precision Oncology, 2017

29872714 (PubMed )
Supplement: 41698_2017_35_MOESM2_ESM.xlsx › phylogic_mafs

Association of human SCN5A polymorphisms with idiopathic ventricular arrhythmia in a Chinese Han cohort.

Fang DH et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2008

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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."