Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.S37A
Back to variants list

KCNQ1

NM_000218.3:p.S37A

Associated Papers

Cancer-associated loss-of-function mutations in KCNQ1 enhance Wnt/β-catenin signalling disrupting epithelial homeostasis.

Berenguier C et al.

Oncogene, 2025

40410368 (PubMed )
Supplement: 41388_2025_3447_MOESM1_ESM.docx

High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.

Muhammad A et al.

Genome Medicine, 2024

38816749 (PubMed )
Supplement: 13073_2024_1340_MOESM6_ESM.xlsx › MAVEScores

MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes.

Lee YK et al.

Cardiovascular Research, 2021

32173736 (PubMed )
Supplement: cvaa019_supplementary_data.docx
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."