Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.K422fs
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KCNQ1

NM_000218.3:p.K422fs

Associated Papers

Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.

Pan X et al.

Channels (austin, Tex.), 2025

41147441 (PubMed )
Supplement: KCHL_A_2580177_SM8819.pdf

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

Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome.

Zhao N et al.

Bmc Cardiovascular Disorders, 2023

Complex and Novel Arrhythmias Precede Stillbirth in Fetuses With De Novo Long QT Syndrome.

Strand S et al.

Circulation. Arrhythmia and Electrophysiology, 2020

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Tester DJ et al.

Heart Rhythm, 2005

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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."