Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.G272C
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KCNQ1

NM_000218.3:p.G272C

Associated Papers

Structural and electrophysiological basis for the modulation of KCNQ1 channel currents by ML277.

Willegems K et al.

Nature Communications, 2022

Two small-molecule activators share similar effector sites in the KCNQ1 channel pore but have distinct effects on voltage sensor movements.

Chen L et al.

Frontiers in Physiology, 2022

ML277 regulates KCNQ1 single-channel amplitudes and kinetics, modified by voltage sensor state.

Eldstrom J et al.

The Journal of General Physiology, 2021

Identification of specific pore residues mediating KCNQ1 inactivation. A novel mechanism for long QT syndrome.

Seebohm G et al.

The Journal of Biological Chemistry, 2001

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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."