Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.V310G
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KCNQ1

NM_000218.3:p.V310G

Associated Papers

An inactivation gate in the selectivity filter of KCNQ1 potassium channels.

Gibor G et al.

Biophysical Journal, 2007

Mutation of colocalized residues of the pore helix and transmembrane segments S5 and S6 disrupt deactivation and modify inactivation of KCNQ1 K+ channels.

Seebohm G et al.

The Journal of Physiology, 2005

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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."