Varaico: Literature-Extracted Genetic Variants

Gene:MIP
Variant:p.A51P
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MIP

NM_012064.4:p.A51P

Associated Papers

A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse.

Takahashi G et al.

Experimental Animals, 2017

A 5-bp insertion in Mip causes recessive congenital cataract in KFRS4/Kyo rats.

Watanabe K et al.

Plos One, 2012

Structural function of MIP/aquaporin 0 in the eye lens; genetic defects lead to congenital inherited cataracts.

Chepelinsky AB

Handbook of Experimental Pharmacology, 2009

Functional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract.

Varadaraj K et al.

Experimental Eye Research, 2008

Specific interaction between lens MIP/Aquaporin-0 and two members of the gamma-crystallin family.

Fan J et al.

Molecular Vision, 2005

gammaE-crystallin recruitment to the plasma membrane by specific interaction between lens MIP/aquaporin-0 and gammaE-crystallin.

Fan J et al.

Investigative Ophthalmology & Visual Science, 2004

Optical dysfunction of the crystalline lens in aquaporin-0-deficient mice.

Shiels A et al.

Physiological Genomics, 2001

Mutations in the founder of the MIP gene family underlie cataract development in the mouse.

Shiels A et al.

Nature Genetics, 1996

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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."