Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.R67C
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KCNE1

NM_000219.6:p.R67C

Associated Papers

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

Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK β-subunit.

Garmany R et al.

Heart Rhythm, 2020

An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.

Roberts JD et al.

Circulation, 2020

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

Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients.

Coll M et al.

Plos One, 2018

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

Abbott GW

Gene, 2016

Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population.

Thongnak C et al.

Disease Markers, 2016

Structural investigation of the transmembrane domain of KCNE1 in proteoliposomes.

Sahu ID et al.

Biochemistry, 2014

Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.

Wang D et al.

Forensic Science International, 2014

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."