Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.R233H
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CRYBB1

NM_001887.4:p.R233H

Associated Papers

Potential role of βB1 crystallin in cataract formation:a systematic review.

Li M et al.

Archives of Biochemistry and Biophysics, 2025

Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.

Guo D et al.

Progress in Retinal and Eye Research, 2025

Cataract-causing Y204X mutation of crystallin protein CRYβB1 promotes its C-terminal degradation and higher-order oligomerization.

Jing X et al.

The Journal of Biological Chemistry, 2023

Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.

Mota A et al.

Oncogene, 2022

35145232 (PubMed )
Supplement: 41388_2022_2221_MOESM3_ESM.xlsx › EEC-3

A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family.

Ji Y et al.

European Journal of Ophthalmology, 2021

A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia.

Jin A et al.

Current Eye Research, 2020

Dissimilarity in the Contributions of the N-Terminal Domain Hydrophobic Core to the Structural Stability of Lens β/γ-Crystallins.

Zhang K et al.

Biochemistry, 2019

A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus.

Rao Y et al.

Molecular Vision, 2017

Cataract-causing mutation S228P promotes βB1-crystallin aggregation and degradation by separating two interacting loops in C-terminal domain.

Qi LB et al.

Protein & Cell, 2016

Cataract-causing mutation R233H affects the stabilities of βB1- and βA3/βB1-crystallins with different pH-dependence.

Xi YB et al.

Biochimica Et Biophysica Acta, 2014

Molecular genetics of congenital nuclear cataract.

Deng H et al.

European Journal of Medical Genetics, 2014

Molecular and structural analysis of genetic variations in congenital cataract.

Kumar M et al.

Molecular Vision, 2013

Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts.

Wang KJ et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2011

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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."