Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.C243*
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KCNA1

NM_000217.3:p.C243*

Associated Papers

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable1.xlsx › SupplementaryTable1_upd

A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.

Gu F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30700791 (PubMed )
Supplement: NIHMS1521482-supplement-Large_Excel_File_1.xlsx › ConfirmedDiagnosesAgreed

Mapping of interactions between the N- and C-termini and the channel core in HERG K+ channels.

de la Peña P et al.

The Biochemical Journal, 2013

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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."