Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.V207L
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KCNQ1

NM_000218.3:p.V207L

Associated Papers

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

ML277 regulates KCNQ1 single-channel amplitudes and kinetics, modified by voltage sensor state.

Eldstrom J et al.

The Journal of General Physiology, 2021

KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.

Streeten EA et al.

Circulation. Genomic and Precision Medicine, 2020

33141630 (PubMed )
Supplement: hcg-13-e003133-s002.xls › Supplemental_Table_8.
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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."