Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3K
Variant:p.K111_D112Splc
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TNNI3K

NM_015978.3:p.K111_D112Splc

Associated Papers

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

Tnni3k regulates cardiomyopathy and cardiac conduction disease through Nfatc1 signaling.

Ouyang S et al.

Genes & Diseases, 2025

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.

Micolonghi C et al.

International Journal of Molecular Sciences, 2024

Role of non-coding variants in cardiovascular disease.

Heshmatzad K et al.

Journal of Cellular and Molecular Medicine, 2023

Whole-Exome Sequencing Identifies a Novel Variant (c.1538T > C) of TNNI3K in Arrhythmogenic Right Ventricular Cardiomyopathy.

Xie T et al.

Frontiers in Cardiovascular Medicine, 2022

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Manickam K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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

The prevalent I686T human variant and loss-of-function mutations in the cardiomyocyte-specific kinase gene TNNI3K cause adverse contractility and concentric remodeling in mice.

Gan P et al.

Human Molecular Genetics, 2021

Multiomics Analysis of Transcriptome, Epigenome, and Genome Uncovers Putative Mechanisms for Dilated Cardiomyopathy.

Liu L et al.

Biomed Research International, 2021

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

Liu J et al.

Journal of Clinical Laboratory Analysis, 2020

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

Whole exome sequencing identifies a novel mutation (c.333 + 2T > C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease.

Fan LL et al.

Gene, 2018

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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."