Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3K
Variant:p.G526D
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TNNI3K

NM_015978.3:p.G526D

Associated Papers

Multifocal Atrial Tachycardia and Genetic Background-Guided Ablation Strategy for Atrial Fibrillation in a Young Woman.

Kong LC et al.

Jacc. Case Reports, 2026

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

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

Ramzan S et al.

Genes, 2021

Atrial fibrillation-a complex polygenetic disease.

Andersen JH et al.

European Journal of Human Genetics : Ejhg, 2021

33279945 (PubMed )
Supplement: 41431_2020_784_MOESM3_ESM.xlsx › Sheet1

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

Molecular and genetic insights into progressive cardiac conduction disease.

Asatryan B 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, 2019

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

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

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

TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.

Theis JL et al.

Human Molecular Genetics, 2014

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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."