Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R293H
Back to variants list

KCNQ1

NM_000218.3:p.R293H

Associated Papers

Rescue of loss-of-function long QT syndrome-associated mutations in KV7.1/KCNE1 by the endocannabinoid N-arachidonoyl-L-serine (ARA-S).

Hiniesto-Iñigo I et al.

British Journal of Pharmacology, 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.sd02.xlsx › Sheet1

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

Cipriani V et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

KCNQ potassium channels modulate Wnt activity in gastro-oesophageal adenocarcinomas.

Shorthouse D et al.

Life Science Alliance, 2023

37748809 (PubMed )
Supplement: LSA-2023-02124_TableS2.xlsx › Table_S2

Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testing.

Summers KM et al.

American Journal of Medical Genetics. Part A, 2010

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."