Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R519C
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KCNQ1

NM_000218.3:p.R519C

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_SupplementaryTable2.xls › SupplementaryTable2

The Crossroad of Ion Channels and Calmodulin in Disease.

Urrutia J et al.

International Journal of Molecular Sciences, 2019

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Li YY et al.

Nature Communications, 2017

28098136 (PubMed )
Supplement: ncomms14121-s5.xlsx › WES_NPC_MAF__N_111_
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