Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.F56C
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KCNE1

NM_000219.6:p.F56C

Associated Papers

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_MOESM3_ESM.xlsx › SpliceAI

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

TEA(+)-sensitive KCNQ1 constructs reveal pore-independent access to KCNE1 in assembled I(Ks) channels.

Kurokawa J et al.

The Journal of General Physiology, 2001

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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."