Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.K70M
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KCNE1

NM_000219.6:p.K70M

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

Modulation of the IKS channel by PIP2 requires two binding sites per monomer.

Kongmeneck AD et al.

Bba Advances, 2023

Long QT syndrome - Bench to bedside.

Ponce-Balbuena D et al.

Heart Rhythm O2, 2021

A conserved arginine/lysine-based motif promotes ER export of KCNE1 and KCNE2 to regulate KCNQ1 channel activity.

Hu B et al.

Channels (austin, Tex.), 2019

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.

Faridi R et al.

Human Mutation, 2019

KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.

Abbott GW

Gene, 2016

Arrhythmogenic KCNE gene variants: current knowledge and future challenges.

Crump SM et al.

Frontiers in Genetics, 2014

24478792 (PubMed )
Supplement: DataSheet1.DOCX

KCNE1 enhances phosphatidylinositol 4,5-bisphosphate (PIP2) sensitivity of IKs to modulate channel activity.

Li Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

An Examination of KCNE1 Mutations and Common Variants in Chronic Tinnitus.

Sand PG et al.

Genes, 2010

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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."