Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.L266R
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KCNQ1

NM_000218.3:p.L266R

Associated Papers

Feedback from the Nascent Chain Triggers Ribosomal Frameshifting and Transcript Decay.

Carmody PJ et al.

Biorxiv : the Preprint Server for Biology, 2025

41509397 (PubMed )
Supplement: media-1.pdf

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

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR et al.

Heart (british Cardiac Society), 2015

25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.pdf
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