Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.E258A
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AQP2

NM_000486.6:p.E258A

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

Aquaporin 2 mutations in nephrogenic diabetes insipidus.

Loonen AJ et al.

Seminars in Nephrology, 2008

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

Nephrogenic diabetes insipidus.

Knoers NV et al.

Seminars in Nephrology, 1999

Aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus.

van Os CH et al.

Proceedings of the Association of American Physicians, 0

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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."