Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.K70N
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KCNE1

NM_000219.6:p.K70N

Associated Papers

PIP2 activation of the cardiac IKs potassium channel.

Cui J et al.

Research Square, 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

Long-QT mutations in KCNE1 modulate the 17β-estradiol response of Kv7.1/KCNE1.

Erlandsdotter LM et al.

Science Advances, 2023

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

Fatty acid analogue N-arachidonoyl taurine restores function of IKs channels with diverse long QT mutations.

Liin SI et al.

Elife, 2016

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

Abbott GW

Gene, 2016

KCNE1 divides the voltage sensor movement in KCNQ1/KCNE1 channels into two steps.

Barro-Soria R et al.

Nature Communications, 2014

Arrhythmogenic KCNE gene variants: current knowledge and future challenges.

Crump SM et al.

Frontiers in Genetics, 2014

24478792 (PubMed )
Supplement: DataSheet1.DOCX

PIP2 regulation of KCNQ channels: biophysical and molecular mechanisms for lipid modulation of voltage-dependent gating.

Zaydman MA et al.

Frontiers in Physiology, 2014

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

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.

Kothiyal P et al.

Bmc Biotechnology, 2010

20146813 (PubMed )
Supplement: 1472-6750-10-10-S1.PDF

N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome.

Ohno S et al.

Heart Rhythm, 2007

Characterization of an LQT5-related mutation in KCNE1, Y81C: implications for a role of KCNE1 cytoplasmic domain in IKs channel function.

Wu DM et al.

Heart Rhythm, 2006

Mutations in KCNE1 in long QT syndrome (LQTS): insights into mechanism of LQTS and drug sensitivity?

Vatta M et al.

Heart Rhythm, 2006

Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.

Lai LP et al.

Journal of Human Genetics, 2005

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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."