Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.K41N
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KCNE1

NM_000219.6:p.K41N

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

ML277 regulates KCNQ1 single-channel amplitudes and kinetics, modified by voltage sensor state.

Eldstrom J et al.

The Journal of General Physiology, 2021

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