Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.K615N
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MYH7

NM_000257.4:p.K615N

Associated Papers

Somatic NAP1L1 p.D349E promotes cardiac hypertrophy through cGAS-STING-IFN signaling.

Lv C et al.

Nature Communications, 2025

40169585 (PubMed )
Supplement: 41467_2025_58453_MOESM4_ESM.xlsx › Sheet1

Beta-myosin heavy-chain mutations R403QLW, V606M, K615N and R663H in patients with hypertrophic cardiomyopathy.

Atay S et al.

Anadolu Kardiyoloji Dergisi : Akd = the Anatolian Journal of Cardiology, 2014

Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.

Otsuka H et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2012

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

Van Driest SL et al.

Journal of the American College of Cardiology, 2004

A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy.

Havndrup O et al.

Scandinavian Cardiovascular Journal : Scj, 2000

DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications.

Smart RV et al.

Clinical Genetics, 1996

Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.

Rayment I et al.

Proceedings of the National Academy of Sciences of the United States of America, 1995

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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."