Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.A743V
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TTN

NM_001267550.2:p.A743V

Associated Papers

TITINdb2-expanding annotation and structural information for protein variants in the giant sarcomeric protein titin.

Weston T et al.

Bioinformatics Advances, 2025

40270927 (PubMed )
Supplement: vbaf062_supplementary_data.docx

Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.

Noureddine M et al.

Frontiers in Physiology, 2023

Genetic Variations Leading to Familial Dilated Cardiomyopathy.

Cho KW et al.

Molecules and Cells, 2016

Exploration of pathomechanisms triggered by a single-nucleotide polymorphism in titin's I-band: the cardiomyopathy-linked mutation T2580I.

Bogomolovas J et al.

Open Biology, 2016

The Rapidly Evolving Role of Titin in Cardiac Physiology and Cardiomyopathy.

Gerull B

The Canadian Journal of Cardiology, 2015

Titin mutations: the fall of Goliath.

Neiva-Sousa M et al.

Heart Failure Reviews, 2015

Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.

Nagueh SF et al.

Jacc. Cardiovascular Imaging, 2015

A rising titan: TTN review and mutation update.

Chauveau C et al.

Human Mutation, 2014

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

Gu Y et al.

Protein & Cell, 2013

Dilated cardiomyopathy: a disease of the myocardium.

Sanbe A

Biological & Pharmaceutical Bulletin, 2013

A novel titin mutation in adult-onset familial dilated cardiomyopathy.

Yoskovitz G et al.

The American Journal of Cardiology, 2012

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Malignant and benign mutations in familial cardiomyopathies: insights into mutations linked to complex cardiovascular phenotypes.

Xu Q et al.

Journal of Molecular and Cellular Cardiology, 2010

Titin-based mechanical signalling in normal and failing myocardium.

Krüger M et al.

Journal of Molecular and Cellular Cardiology, 2009

Sense and stretchability: the role of titin and titin-associated proteins in myocardial stress-sensing and mechanical dysfunction.

Linke WA

Cardiovascular Research, 2008

Molecular etiology and pathogenesis of hereditary cardiomyopathy.

Kimura A

Circulation Journal : Official Journal of the Japanese Circulation Society, 2008

Molecular etiology of idiopathic cardiomyopathy.

Arimura T et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007

Genetics of dilated cardiomyopathy.

Kärkkäinen S et al.

Annals of Medicine, 2007

Sarcomeric protein mutations in dilated cardiomyopathy.

Chang AN et al.

Heart Failure Reviews, 2005

Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy.

Matsumoto Y et al.

Journal of Muscle Research and Cell Motility, 2005

Titin mutations as the molecular basis for dilated cardiomyopathy.

Itoh-Satoh M et al.

Biochemical and Biophysical Research Communications, 2002

Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.

Weston TGR et al.

Wires Mechanisms of Disease, 0

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