Varaico: Literature-Extracted Genetic Variants

Gene:MIP
Variant:p.G213fs
Back to variants list

MIP

NM_012064.4:p.G213fs

Associated Papers

A novel single-base deletional mutation of MIP impairs protein distribution and cell-to-cell adhesion in autosomal dominant cataracts in a Chinese family.

Yu Y et al.

American Journal of Medical Genetics. Part A, 2024

Novel MIP gene mutation causes autosomal-dominant congenital cataract.

Ni JL et al.

International Journal of Ophthalmology, 2024

The relationship between major intrinsic protein genes and cataract.

Sun W et al.

International Ophthalmology, 2021

Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.

Long X et al.

Eye (london, England), 2018

A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family.

Song Z et al.

Plos One, 2015

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

An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract.

Senthil Kumar G et al.

Experimental Eye Research, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."