Varaico: Literature-Extracted Genetic Variants

Gene:AQP5
Variant:p.G103D
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AQP5

NM_001651.4:p.G103D

Associated Papers

Mutation of a single amino acid converts the human water channel aquaporin 5 into an anion channel.

Qin X et al.

American Journal of Physiology. Cell Physiology, 2013

Effects of naturally occurring G103D point mutation of AQP5 on its water permeability, trafficking and cellular localization in the submandibular gland of rats.

Karabasil MR et al.

Biology of the Cell, 2011

Effects of natural point mutation of rat aquaporin 5 expressed in vitro on its capacity of water permeability and membrane trafficking.

Karabasil MR et al.

The Journal of Medical Investigation : Jmi, 2009

A naturally occurring point mutation in the rat aquaporin 5 gene, influencing its protein production by and secretion of water from salivary glands.

Murdiastuti K et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2006

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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."