Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.C154S
Back to variants list

KCNJ2

NM_000891.3:p.C154S

Associated Papers

Biochemical, biophysical, and structural investigations of two mutants (C154Y and R312H) of the human Kir2.1 channel involved in the Andersen-Tawil syndrome.

Zuniga D et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

Contribution of cytosolic cysteine residues to the gating properties of the Kir2.1 inward rectifier.

Garneau L et al.

Biophysical Journal, 2003

Two critical cysteine residues implicated in disulfide bond formation and proper folding of Kir2.1.

Cho HC et al.

Biochemistry, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."