Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.F78C
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KCNE1

NM_000219.6:p.F78C

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

Identification of a protein-protein interaction between KCNE1 and the activation gate machinery of KCNQ1.

Lvov A et al.

The Journal of General Physiology, 2010

Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels.

Seebohm G et al.

Circulation Research, 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."