Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.E1702K
Back to variants list

SCN4A

NM_000334.4:p.E1702K

Associated Papers

Structural basis of cytoplasmic NaV1.5 and NaV1.4 regulation.

Nathan S et al.

The Journal of General Physiology, 2021

EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation.

Horie R et al.

Muscle & Nerve, 2020

Calmodulin and Ca(2+) control of voltage gated Na(+) channels.

Gabelli SB et al.

Channels (austin, Tex.), 2016

Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.

Charles G et al.

Journal of Neurology, 2013

Skeletal muscle na channel disorders.

Simkin D et al.

Frontiers in Pharmacology, 2011

Correlating phenotype and genotype in the periodic paralyses.

Miller TM et al.

Neurology, 2004

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."