Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.I848T
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SCN5A

NM_000335.5:p.I848T

Associated Papers

Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.

Akbari Ahangar A et al.

Iscience, 2024

39286500 (PubMed )
Supplement: mmc1.pdf

The Role of Voltage-Gated Sodium Channels in Pain Signaling.

Bennett DL et al.

Physiological Reviews, 2019

Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia.

Zhang Z et al.

Scandinavian Journal of Pain, 2014

Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents.

Theile JW et al.

The Journal of Physiology, 2011

Sodium channel mutations in epilepsy and other neurological disorders.

Meisler MH et al.

The Journal of Clinical Investigation, 2005

Phosphorylation of a chronic pain mutation in the voltage-gated sodium channel Nav1.7 increases voltage sensitivity.

Kerth CM et al.

The Journal of Biological Chemistry, 0

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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."