Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.K526Q
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KCNQ1

NM_000218.3:p.K526Q

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

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

Cipriani V et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_5.xlsx › SuppData_5

1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.

Bajaj A et al.

Human Genomics, 2022

35932045 (PubMed )
Supplement: 40246_2022_402_MOESM5_ESM.xlsx › Additional_File_5

Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort.

Tomar S et al.

Circulation. Genomic and Precision Medicine, 2022

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