Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R190W
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SCN5A

NM_000335.5:p.R190W

Associated Papers

LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapy.

Wang Z et al.

Journal of Advanced Research, 2025

Correction: "Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".

Martin S et al.

Bmc Cardiovascular Disorders, 2024

39482628 (PubMed )
Supplement: 12872_2024_4286_MOESM1_ESM.xlsx › Tabelle1

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".

Martin S et al.

Bmc Cardiovascular Disorders, 2024

39068400 (PubMed )
Supplement: 12872_2024_4065_MOESM2_ESM.xlsx › Tabelle1

Epigenetics in LMNA-Related Cardiomyopathy.

Wang Y et al.

Cells, 2023

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_1

Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Wang M et al.

Frontiers in Cardiovascular Medicine, 2022

36277779 (PubMed )
Supplement: Data_Sheet_1.pdf

The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy.

Salvarani N et al.

Nature Communications, 2019

31118417 (PubMed )
Supplement: 41467_2019_9929_MOESM1_ESM.pdf

Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.

van Tienen FHJ et al.

European Journal of Human Genetics : Ejhg, 2019

Clonal architectures and driver mutations in metastatic melanomas.

Ding L et al.

Plos One, 2014

25393105 (PubMed )
Supplement: pone.0111153.s002.zip › File_S2 › Table_S14.xlsx › Supp_Table_14b

The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: endorsed by the World Heart Federation.

Arbustini E et al.

Journal of the American College of Cardiology, 2013

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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."