Varaico: Literature-Extracted Genetic Variants

Gene:SCN11A
Variant:p.R222C
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SCN11A

NM_001349253.2:p.R222C

Associated Papers

Charge Reversal of the Uppermost Arginine in Sliding Helix S4-I Affects Gating of Cardiac Sodium Channel.

Kulichik OE et al.

International Journal of Molecular Sciences, 2025

Familial gain-of-function Nav1.9 mutation in a painful channelopathy.

Han C et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

Claes L et al.

American Journal of Human Genetics, 2001

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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."