Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.Y139*
Back to variants list

CRYGC

NM_020989.4:p.Y139*

Associated Papers

Case Report: A family of congenital cataract caused by a novel mutation in the CRYGC gene c.52G>A.

Ma S et al.

Frontiers in Medicine, 2025

Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract.

Delas F et al.

International Journal of Molecular Sciences, 2023

A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea.

Zhou Z et al.

Ophthalmology Science, 2022

Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing

Taylan Şekeroğlu H et al.

Turkish Journal of Ophthalmology, 2021

A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred.

Kandaswamy DK et al.

Ophthalmic Genetics, 2020

Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.

Zhong Z et al.

Scientific Reports, 2017

Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.

Sun Z et al.

Molecular Vision, 2017

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

Reis LM et al.

Human Genetics, 2013

A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.

Zhang L et al.

Molecular Vision, 2009

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."