Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.W17*
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KCNE1

NM_000219.6:p.W17*

Associated Papers

Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2.

Vanoye CG et al.

Circulation. Genomic and Precision Medicine, 2025

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.

Shadab M et al.

Molecular Diagnosis & Therapy, 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_MOESM2_ESM.xlsx › LitReview

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

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."