Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.D259N
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KCNJ2

NM_000891.3:p.D259N

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_Gnomad_0325322.xlsx › Sheet1

Charges in the cytoplasmic pore control intrinsic inward rectification and single-channel properties in Kir1.1 and Kir2.1 channels.

Chang HK et al.

The Journal of Membrane Biology, 2007

Functional roles of charged amino acid residues on the wall of the cytoplasmic pore of Kir2.1.

Fujiwara Y et al.

The Journal of General Physiology, 2006

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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."