Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.V215L
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SCN5A

NM_000335.5:p.V215L

Associated Papers

Spliced isoforms of the cardiac Nav1.5 channel modify channel activation by distinct structural mechanisms.

Mancino AS et al.

The Journal of General Physiology, 2022

Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.

Eldstrom J et al.

The Journal of General Physiology, 2010

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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."