Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.L215V
Back to variants list

SCN1A

NM_001165963.4:p.L215V

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

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Wei F et al.

Neuroscience Bulletin, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."