Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.T169R
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KCNQ1

NM_000218.3:p.T169R

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

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable2.xls › SupplementaryTable2

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

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

Exploiting ion channel structure to assess rare variant pathogenicity.

Kroncke BM et al.

Heart Rhythm, 2018

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Stattin EL et al.

Bmc Cardiovascular Disorders, 2012

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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."