Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ1
Variant:p.V24A
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KCNJ1

NM_153766.3:p.V24A

Associated Papers

Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.

Bichet DG et al.

Clinical Kidney Journal, 2012

A threonine residue (Thr71) at the intracellular end of the M1 helix plays a critical role in the gating of Kir6.2 channels by intracellular ATP and protons.

Cui N et al.

The Journal of Membrane Biology, 2003

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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."