Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.S261*
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AQP2

NM_000486.6:p.S261*

Associated Papers

Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.

Kamsteeg EJ et al.

Human Mutation, 2009

Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.

Kamsteeg EJ et al.

The Journal of Cell 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."