Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.E115E
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KCNQ1

NM_000218.3:p.E115E

Associated Papers

Ion permeation through a narrow cavity constriction in KCNQ1 channels: Mechanism and implications for pathogenic variants.

Mkrtchyan L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Identification of mutations in canine oral mucosal melanomas by exome sequencing and comparison with human melanomas.

Dagli MLZ et al.

Scientific Reports, 2024

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

Zhong L et al.

Circulation Research, 2024

Two-stage electro-mechanical coupling of a KV channel in voltage-dependent activation.

Hou P et al.

Nature Communications, 2020

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.

Cui J

Biophysical Journal, 2016

Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.

Ma LJ et al.

Biophysical Journal, 2011

Differential roles of S6 domain hinges in the gating of KCNQ potassium channels.

Seebohm G et al.

Biophysical Journal, 2006

Molecular determinants of KCNQ1 channel block by a benzodiazepine.

Seebohm G et al.

Molecular Pharmacology, 2003

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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."