Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ5
Variant:p.R41C
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KCNJ5

NM_000890.5:p.R41C

Associated Papers

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

Genetic Characterization of GnRH/LH-Responsive Primary Aldosteronism.

Gagnon N et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Melloni GEM et al.

Breast Cancer Research : Bcr, 2017

28569218 (PubMed )
Supplement: 13058_2017_854_MOESM3_ESM.xlsx › Table_S6
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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."