Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.E258Q
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AQP2

NM_000486.6:p.E258Q

Associated Papers

Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.

Kamsteeg EJ et al.

Pflugers Archiv : European Journal of Physiology, 2008

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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."