Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.S64C
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KCNE1

NM_000219.6:p.S64C

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

Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the KCNH2-Encoded Kv11.1 Channel.

Smith JL et al.

Circulation. Arrhythmia and Electrophysiology, 2018

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

Reconstitution of KCNE1 into lipid bilayers: comparing the structural, dynamic, and activity differences in micelle and vesicle environments.

Coey AT et al.

Biochemistry, 2011

Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel.

Kang C et al.

Biochemistry, 2008

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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."