Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.F113C
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KCNQ1

NM_000218.3:p.F113C

Associated Papers

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_MOESM3_ESM.xlsx › SpliceAI

The second PI(3,5)P2 binding site in the S0 helix of KCNQ1 stabilizes PIP2-at the primary PI1 site with potential consequences on intermediate-to-open state transition.

Dellin M et al.

Biological Chemistry, 2023

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