Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.Y5H
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TNNC1

NM_003280.3:p.Y5H

Associated Papers

Cardiac Troponin C E135A Variant Impairs Myofilament Response to PKA Phosphorylation and Is Associated With Autosomal Dominant Dilated Cardiomyopathy With Diastolic Dysfunction.

Landim-Vieira M et al.

Circulation. Genomic and Precision Medicine, 2025

Modulation of Structure and Dynamics of Cardiac Troponin by Phosphorylation and Mutations Revealed by Molecular Dynamics Simulations.

Yang Z et al.

The Journal of Physical Chemistry. B, 2023

37791815 (PubMed )
Supplement: jp3c02337_si_001.pdf

Mouse Models of Cardiomyopathies Caused by Mutations in Troponin C.

Tikunova SB et al.

International Journal of Molecular Sciences, 2023

A comprehensive guide to genetic variants and post-translational modifications of cardiac troponin C.

Reinoso TR et al.

Journal of Muscle Research and Cell Motility, 2021

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants.

Landim-Vieira M et al.

Frontiers in Physiology, 2019

Structure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugs.

Li MX et al.

Gene, 2015

Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies.

Kalyva A et al.

Journal of Muscle Research and Cell Motility, 2014

Investigating the role of uncoupling of troponin I phosphorylation from changes in myofibrillar Ca(2+)-sensitivity in the pathogenesis of cardiomyopathy.

Messer AE et al.

Frontiers in Physiology, 2014

Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Gu Y et al.

Protein & Cell, 2013

Inherited cardiomyopathies caused by troponin mutations.

Lu QW et al.

Journal of Geriatric Cardiology : Jgc, 2013

Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy.

Pinto JR et al.

The Journal of Biological Chemistry, 2011

Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

Rampersaud E et al.

Progress in Pediatric Cardiology, 2011

Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.

Hershberger RE et al.

Circulation. Cardiovascular Genetics, 2010

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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."