Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.H126L
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KCNQ1

NM_000218.3:p.H126L

Associated Papers

Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.

Harvey ML et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis.

Brewer KR et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Predicting the functional impact of KCNQ1 variants with artificial neural networks.

Phul S et al.

Plos Computational Biology, 2022

35442947 (PubMed )
Supplement: pcbi.1010038.s010.xlsx › Missense_Mutations

Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Zhang Y et al.

Frontiers in Pharmacology, 2022

Collision-Induced Unfolding Differentiates Functional Variants of the KCNQ1 Voltage Sensor Domain.

Fantin SM et al.

Journal of the American Society for Mass Spectrometry, 2020

A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.

Kernik DC et al.

Plos Computational Biology, 2020

Upgraded molecular models of the human KCNQ1 potassium channel.

Kuenze G et al.

Plos One, 2019

Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.

Huang H et al.

Science Advances, 2018

The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.

Huttunen H et al.

Frontiers in Endocrinology, 2018

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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."