Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.Q50R
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TNNC1

NM_003280.3:p.Q50R

Associated Papers

Mouse Models of Cardiomyopathies Caused by Mutations in Troponin C.

Tikunova SB et al.

International Journal of Molecular Sciences, 2023

The effect of Mg2+ on Ca2+ binding to cardiac troponin C in hypertrophic cardiomyopathy associated TNNC1 variants.

Rayani K et al.

The Febs Journal, 2022

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

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Mazzarotto F et al.

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

33500567 (PubMed )
Supplement: 41436_2020_1049_MOESM2_ESM.xlsx › Table_S2

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

The Role of Genetics in Peripartum Cardiomyopathy.

Lee YZJ et al.

Journal of Cardiovascular Translational Research, 2017

Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca2+-sensitizing mutations.

Stevens CM et al.

The Journal of Biological Chemistry, 2017

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

Li MX et al.

Gene, 2015

Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.

van Spaendonck-Zwarts KY et al.

European Heart Journal, 2014

Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy.

Pinto JR et al.

The Journal of Biological Chemistry, 2011

Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy.

van Spaendonck-Zwarts KY et al.

Circulation, 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."