Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.R669G
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SCN4A

NM_000334.4:p.R669G

Associated Papers

Cell-Free Expression of Sodium Channel Domains for Pharmacology Studies. Noncanonical Spider Toxin Binding Site in the Second Voltage-Sensing Domain of Human Nav1.4 Channel.

Myshkin MY et al.

Frontiers in Pharmacology, 2019

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Zaharieva IT et al.

Brain : a Journal of Neurology, 2016

26700687 (PubMed )
Supplement: awv352_supplementary_data.zip › Supplemental_material_final_REVISED_proof.docx

Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis.

Sokolov S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008

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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."