Varaico: Literature-Extracted Genetic Variants

Gene:KCNB1
Variant:p.R294H
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KCNB1

NM_004975.4:p.R294H

Associated Papers

Conifer metabolite pisiferic acid restores activity in human Kv1.2 potassium channels carrying pathogenic sequence variants.

Manville RW et al.

Iscience, 2025

Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology.

Xie C et al.

Molecular Neurobiology, 2024

Atomic constraints between the voltage sensor and the pore domain in a voltage-gated K+ channel of known structure.

Lewis A et al.

The Journal of General Physiology, 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."