Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.E45K
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KCNJ5

NM_000890.5:p.E45K

Associated Papers

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

Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.

Coyote-Maestas W et al.

Elife, 2022

35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Fedida J et al.

Plos One, 2017

28767663 (PubMed )
Supplement: pone.0181840.s008.xlsx › Feuil1

The frequency of neoantigens per somatic mutation rather than overall mutational load or number of predicted neoantigens per se is a prognostic factor in ovarian clear cell carcinoma.

Matsushita H et al.

Oncoimmunology, 0

28920005 (PubMed )
Supplement: supplement_1.zip › KONI_A_1338996_s03.xlsx › Supplementary_Table_S2
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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."