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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNQ1

Variant:p.F339L

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KCNQ1

NM_000218.3:p.F339L

hg38:chr11:2583530 C>A

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

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

Shorthouse D et al.

Life Science Alliance, 2023

37748809 (PubMed )

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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."