Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.I4M
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TNNC1

NM_003280.3:p.I4M

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

NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.

Manjunath U et al.

Frontiers in Neuroscience, 2025

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

The intrinsically disordered C terminus of troponin T binds to troponin C to modulate myocardial force generation.

Johnston JR et al.

The Journal of Biological Chemistry, 2019

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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."