Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.Q96P
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KCNE1

NM_000219.6:p.Q96P

Associated Papers

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_MOESM3_ESM.xlsx › SpliceAI

Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T).

Rothenberg I et al.

Heartrhythm Case Reports, 2016

Building KCNQ1/KCNE1 channel models and probing their interactions by molecular-dynamics simulations.

Xu Y et al.

Biophysical Journal, 2013

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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."