Varaico: Literature-Extracted Genetic Variants

Gene:MYPN
Variant:p.V1195M
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MYPN

NM_032578.4:p.V1195M

Associated Papers

Cardiomyopathy-associated and basic residue mutations in myopalladin alter actin binding, bundling, and structural stability.

Arachchige AR et al.

Protein Science : a Publication of the Protein Society, 2026

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Bonaventura J et al.

Journal of the American Heart Association, 2024

38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf

The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.

Wadmore K et al.

International Journal of Molecular Sciences, 2021

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S12

Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.

Nouhravesh N et al.

Molecular Genetics & Genomic Medicine, 2016

Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.

Meyer T et al.

European Journal of Human Genetics : Ejhg, 2013

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

Norton N et al.

Circulation. Cardiovascular Genetics, 2012

Cytoplasmic Ig-domain proteins: cytoskeletal regulators with a role in human disease.

Otey CA et al.

Cell Motility and the Cytoskeleton, 2009

Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy.

Duboscq-Bidot L et al.

Cardiovascular Research, 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."