Varaico: Literature-Extracted Genetic Variants

Gene:MYOZ2
Variant:p.I246M
Back to variants list

MYOZ2

NM_016599.5:p.I246M

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.

Micolonghi C et al.

International Journal of Molecular Sciences, 2024

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1

Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Jääskeläinen P et al.

Esc Heart Failure, 2019

30775854 (PubMed )
Supplement: EHF2-6-436-s005.xlsx › Taul1

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

Walsh R et al.

European Heart Journal, 2017

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

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

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

Andreasen C et al.

European Journal of Human Genetics : Ejhg, 2013

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

Gu Y et al.

Protein & Cell, 2013

Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity.

Ruggiero A et al.

Cardiovascular Research, 2013

Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy.

Osio A et al.

Circulation Research, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."