Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.Q419P
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SCN5A

NM_000335.5:p.Q419P

Associated Papers

Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2, and SCN5A Compared With Patch-Clamp Functional Characterization.

Ye D et al.

Circulation. Genomic and Precision Medicine, 2024

Multifocal ectopic purkinje-related premature contractions and related cardiomyopathy.

Calloe K et al.

Frontiers in Cardiovascular Medicine, 2023

A novel functional variant residing outside the SCN5A-encoded Nav1.5 voltage-sensing domain causes multifocal ectopic Purkinje-related premature contractions.

Gao X et al.

Heartrhythm Case Reports, 2022

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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."