Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.K246I
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MYH7

NM_000257.4:p.K246I

Associated Papers

The G256E HCM mutation prolongs cardiac muscle relaxation via altered nucleotide handling.

Regnier M et al.

Research Square, 2025

The G256E HCM mutation prolongs relaxation via altered nucleotide handling.

Kao KY et al.

Biorxiv : the Preprint Server for Biology, 2025

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_S3

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Alamo L et al.

Elife, 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_S1A
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