Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R116C
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KCNQ1

NM_000218.3:p.R116C

Associated Papers

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

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S12
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