Varaico: Literature-Extracted Genetic Variants

Gene:CRYGD
Variant:p.I4F
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CRYGD

NM_006891.4:p.I4F

Associated Papers

Zebrafish as a model for crystallin-associated congenital cataracts in humans.

Rossen JL et al.

Frontiers in Cell and Developmental Biology, 2025

α-Crystallins in the Vertebrate Eye Lens: Complex Oligomers and Molecular Chaperones.

Sprague-Piercy MA et al.

Annual Review of Physical Chemistry, 2021

Human αB-crystallin discriminates between aggregation-prone and function-preserving variants of a client protein.

Sprague-Piercy MA et al.

Biochimica Et Biophysica Acta. General Subjects, 2020

Expression of Cataract-linked γ-Crystallin Variants in Zebrafish Reveals a Proteostasis Network That Senses Protein Stability.

Wu SY et al.

The Journal of Biological Chemistry, 2016

Dense nuclear cataract caused by the gammaB-crystallin S11R point mutation.

Li L et al.

Investigative Ophthalmology & Visual Science, 2008

GammaD-crystallin associated protein aggregation and lens fiber cell denucleation.

Wang K et al.

Investigative Ophthalmology & Visual Science, 2007

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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."