Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3K
Variant:p.T539A
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TNNI3K

NM_015978.3:p.T539A

Associated Papers

Clockwise bundle branch re-entrant ventricular tachycardia in a teenage patient as the first manifestation of dilated cardiomyopathy associated with the p.Ile512Leu TNNI3k variant: a case report.

González-Quijano M et al.

European Heart Journal. Case Reports, 2025

Phenotypic expression of rare progressive cardiac conduction disease variants in the general population.

Shah RA et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2025

40359255 (PubMed )
Supplement: euaf103_supplementary_data.xls › Supplemental_Table_1

[Dilated cardiomyopathy and conduction disorder due to TNNI3K mutation].

Gayán-Ordás J et al.

Archivos De Cardiologia De Mexico, 2025

Reduced kinase function in two ultra-rare TNNI3K variants in families with congenital junctional ectopic tachycardia.

Pham C et al.

Clinical Genetics, 2024

Expression Levels of the Tnni3k Gene in the Heart Are Highly Associated with Cardiac and Glucose Metabolism-Related Phenotypes and Functional Pathways.

Gu Q et al.

International Journal of Molecular Sciences, 2023

Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias.

Pham C et al.

Circulation. Genomic and Precision Medicine, 2023

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family.

Ramzan S et al.

Genes, 2021

The Diverse Roles of TNNI3K in Cardiac Disease and Potential for Treatment.

Pham C et al.

International Journal of Molecular Sciences, 2021

A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes.

Touat-Hamici Z et al.

Scientific Reports, 2021

Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Liu J et al.

Journal of Clinical Laboratory Analysis, 2020

Tnni3k alleles influence ventricular mononuclear diploid cardiomyocyte frequency.

Gan P et al.

Plos Genetics, 2019

Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys).

Podliesna S et al.

Heart Rhythm, 2019

Nonsynonymous TNNI3K mutations and phenotypes: More than a "simple" cardiomyopathy.

Dittmann S et al.

Heart Rhythm, 2019

Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia.

Xi Y et al.

International Journal of Cardiology, 2015

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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."