Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.S68T
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KCNE1

NM_000219.6:p.S68T

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_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

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

MinK endows the I(Ks) potassium channel pore with sensitivity to internal tetraethylammonium.

Sesti F et al.

Biophysical Journal, 2000

Stilbenes and fenamates rescue the loss of I(KS) channel function induced by an LQT5 mutation and other IsK mutants.

Abitbol I et al.

The Embo Journal, 1999

K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current.

Barhanin J et al.

Nature, 1996

The protein IsK is a dual activator of K+ and Cl- channels.

Attali B et al.

Nature, 1993

Human xeroderma pigmentosum group D gene encodes a DNA helicase.

Sung P et al.

Nature, 1993

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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."