Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.R260C
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KCNJ2

NM_000891.3:p.R260C

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

Comprehensive genomic variation profiling of cervical intraepithelial neoplasia and cervical cancer identifies potential targets for cervical cancer early warning.

Huang J et al.

Journal of Medical Genetics, 2019

30567904 (PubMed )
Supplement: jmedgenet-2018-105745supp001.pdf

Probing pore topology and conformational changes of Kir2.1 potassium channels by cysteine scanning mutagenesis.

Kubo Y et al.

Febs Letters, 1998

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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."