Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.G272A
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KCNQ1

NM_000218.3:p.G272A

Associated Papers

Targeting the IKs Channel PKA Phosphorylation Axis to Restore Its Function in High-Risk LQT1 Variants.

Zhong L et al.

Circulation Research, 2024

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

Willegems K et al.

Nature Communications, 2022

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

Eldstrom J et al.

The Journal of General Physiology, 2021

KCNQ1 subdomains involved in KCNE modulation revealed by an invertebrate KCNQ1 orthologue.

Nakajo K et al.

The Journal of General Physiology, 2011

Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.

Ma LJ et al.

Biophysical Journal, 2011

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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."