Varaico: Literature-Extracted Genetic Variants

Gene:TNPO1
Variant:p.P33S
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TNPO1

NM_002270.4:p.P33S

Associated Papers

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 of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka.

Javadiyan S et al.

Molecular Genetics & Genomic Medicine, 2018

A novel MIP mutation in familial congenital nuclear cataracts.

Qin L et al.

European Journal of Medical Genetics, 2016

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Ma AS et al.

Human Mutation, 2016

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

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

Wang KJ et al.

Molecular Vision, 2011

A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Yang G 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

Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.

Jiang J et al.

Molecular Vision, 2009

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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."