Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.G245R
Back to variants list

KCNQ1

NM_000218.3:p.G245R

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

41445606 (PubMed )
Supplement: media-2.xlsx › File_S2

Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.

Pan X et al.

Channels (austin, Tex.), 2025

41147441 (PubMed )
Supplement: KCHL_A_2580177_SM8819.pdf

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

GENESIS: Gene-Specific Machine Learning Models for Variants of Uncertain Significance Found in Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome-Associated Genes.

Draelos RL et al.

Circulation. Arrhythmia and Electrophysiology, 2022

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

Rare Variation in Drug Metabolism and Long QT Genes and the Genetic Susceptibility to Acquired Long QT Syndrome.

Gray B et al.

Circulation. Genomic and Precision Medicine, 2022

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."