Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R237M
Back to variants list

KCNQ1

NM_000218.3:p.R237M

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

Classification models distinguish functional and trafficking effects of KCNQ1 variants to enhance variant interpretation.

Chang-Gonzalez AC et al.

Biorxiv : the Preprint Server for Biology, 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

39969993 (PubMed )
Supplement: pnas.2412971122.sapp.pdf
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."