Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.E134D
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TNNC1

NM_003280.3:p.E134D

Associated Papers

Mouse Models of Cardiomyopathies Caused by Mutations in Troponin C.

Tikunova SB et al.

International Journal of Molecular Sciences, 2023

Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy.

Zaffran S et al.

International Journal of Molecular Sciences, 2023

Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.

Kurzlechner LM et al.

Journal of Personalized Medicine, 2022

35629155 (PubMed )
Supplement: jpm-12-00733-s001.zip › HCM_ES_Variants_Manuscript__Supplemental_Table_S1.xlsx › TNNC1

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

Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.

Veltri T et al.

Frontiers in Physiology, 2017

Docking-based modeling of protein-protein interfaces for extensive structural and functional characterization of missense mutations.

Barradas-Bautista D et al.

Plos One, 2017

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

Li MX et al.

Gene, 2015

The structural and functional effects of the familial hypertrophic cardiomyopathy-linked cardiac troponin C mutation, L29Q.

Robertson IM et al.

Journal of Molecular and Cellular Cardiology, 2015

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

Kalyva A et al.

Journal of Muscle Research and Cell Motility, 2014

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

Gu Y et al.

Protein & Cell, 2013

A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.

Parvatiyar MS et al.

The Journal of Biological Chemistry, 2012

Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins.

Landstrom AP et al.

Current Molecular Medicine, 2012

Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C.

Swindle N et al.

Biochemistry, 2010

Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.

Landstrom AP et al.

Journal of Molecular and Cellular Cardiology, 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."