Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.E171Q
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SCN5A

NM_000335.5:p.E171Q

Associated Papers

Multifocal Ectopic Purkinje Premature Contractions due to neutralization of an SCN5A negative charge: structural insights into the gating pore hypothesis.

Glazer AM et al.

Biorxiv : the Preprint Server for Biology, 2024

Molecular interactions of the gating modifier toxin ProTx-II with NaV 1.5: implied existence of a novel toxin binding site coupled to activation.

Smith JJ et al.

The Journal of Biological Chemistry, 2007

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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."