Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.F53C
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KCNE1

NM_000219.6:p.F53C

Associated Papers

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

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

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

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

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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."