Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.Y46C
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KCNE1

NM_000219.6:p.Y46C

Associated Papers

Functional profiling of KCNE1 variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2.

Vanoye CG et al.

Biorxiv : the Preprint Server for Biology, 2025

High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.

Muhammad A et al.

Genome Medicine, 2024

38816749 (PubMed )
Supplement: 13073_2024_1340_MOESM1_ESM.xlsx › ClinVar

A generic binding pocket for small molecule IKs activators at the extracellular inter-subunit interface of KCNQ1 and KCNE1 channel complexes.

Chan M et al.

Elife, 2023

Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation.

Kuenze G et al.

Elife, 2020

33095155 (PubMed )
Supplement: elife-57680-fig7-data1.xlsx › Panel_C_-_Q1_activation_Vhalf

An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.

Roberts JD et al.

Circulation, 2020

Probing Structural Dynamics and Topology of the KCNE1 Membrane Protein in Lipid Bilayers via Site-Directed Spin Labeling and Electron Paramagnetic Resonance Spectroscopy.

Sahu ID et al.

Biochemistry, 2015

Structural investigation of the transmembrane domain of KCNE1 in proteoliposomes.

Sahu ID et al.

Biochemistry, 2014

Probing the structural basis for differential KCNQ1 modulation by KCNE1 and KCNE2.

Wang Y et al.

The Journal of General Physiology, 2012

Gating-related molecular motions in the extracellular domain of the IKs channel: implications for IKs channelopathy.

Wang YH et al.

The Journal of Membrane Biology, 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."