Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.L203P
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KCNQ1

NM_000218.3:p.L203P

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

Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.

Yee LA et al.

Journal of the American Heart Association, 2022

36102233 (PubMed )
Supplement: JAH3-11-e025108-s001.pdf

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

KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.

Streeten EA et al.

Circulation. Genomic and Precision Medicine, 2020

33141630 (PubMed )
Supplement: hcg-13-e003133-s002.xls › Supplemental_Table_9.

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

Brewer KR et al.

Frontiers in Pharmacology, 2020

Beyond diabetes mellitus: close pathological association of mutations of the KCNQ1 gene with other systemic disorders.

Kapoor S

Annals of the Academy of Medicine, Singapore, 2012

A novel KCNQ1 variant (L203P) associated with torsades de pointes-related syncope in a Steinert syndrome patient.

Patoine D et al.

The Canadian Journal of Cardiology, 0

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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."