Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.T311A
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KCNQ1

NM_000218.3:p.T311A

Associated Papers

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S12

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

Brewer KR et al.

Frontiers in Pharmacology, 2020

Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.

Shimizu W et al.

Jama Cardiology, 2019

Molecular determinants of Kv7.1/KCNE1 channel inhibition by amitriptyline.

Villatoro-Gómez K et al.

Biochemical Pharmacology, 2018

Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.

Ma LJ et al.

Biophysical Journal, 2011

Determinants within the turret and pore-loop domains of KCNQ3 K+ channels governing functional activity.

Zaika O et al.

Biophysical Journal, 2008

Chromanol 293B binding in KCNQ1 (Kv7.1) channels involves electrostatic interactions with a potassium ion in the selectivity filter.

Lerche C et al.

Molecular Pharmacology, 2007

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."