Varaico: Literature-Extracted Genetic Variants

Gene:MIP
Variant:p.R187C
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MIP

NM_012064.4:p.R187C

Associated Papers

In Silico Modelling of the AQP0 T138R Mutation and its' links to Potential Mechanisms of Cataractogenesis.

Nikolaieva Y et al.

Research Square, 2025

Novel MIP gene mutation causes autosomal-dominant congenital cataract.

Ni JL et al.

International Journal of Ophthalmology, 2024

A novel missense mutation in the gene encoding major intrinsic protein (MIP) in a Giant panda with unilateral cataract formation.

Bai C et al.

Bmc Genomics, 2021

The relationship between major intrinsic protein genes and cataract.

Sun W et al.

International Ophthalmology, 2021

Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts.

Zhou Z et al.

Experimental and Therapeutic Medicine, 2018

Identification and Functional Analysis of a Novel MIP Gene Mutation Associated with Congenital Cataract in a Chinese Family.

Shentu X et al.

Plos One, 2015

Molecular genetics of congenital nuclear cataract.

Deng H et al.

European Journal of Medical Genetics, 2014

A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family.

Yu Y et al.

Bmc Medical Genetics, 2014

A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.

Ding X et al.

Plos One, 2014

Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion.

Kumari SS et al.

Experimental Eye Research, 2013

The Arg233Lys AQP0 mutation disturbs aquaporin0-calmodulin interaction causing polymorphic congenital cataract.

Hu S et al.

Plos One, 2012

A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.

Wang KJ et al.

Molecular Vision, 2011

Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP.

Xiao X et al.

Molecular Vision, 2011

A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family.

Wang W et al.

Molecular Vision, 2010

Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus.

Robben JH et al.

American Journal of Physiology. Renal 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."