Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.E115D
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KCNQ1

NM_000218.3:p.E115D

Associated Papers

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

Ion permeation through a narrow cavity constriction in KCNQ1 channels: Mechanism and implications for pathogenic variants.

Mkrtchyan L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

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