Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.R116C
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ACTB

NM_001101.5:p.R116C

Associated Papers

Functional Rescue of Cataract-Causing αA-G98R-Crystallin by Targeted Compensatory Suppressor Mutations in Human αA-Crystallin.

Phadte AS et al.

Biochemistry, 2019

The -346T polymorphism of the SH2D1A gene is a risk factor for development of autoimmunity/lymphoproliferation in males with defective Fas function.

Boggio E et al.

Human Immunology, 2012

Trimethylamine N-oxide alleviates the severe aggregation and ER stress caused by G98R alphaA-crystallin.

Gong B et al.

Molecular Vision, 2009

Modulation of alpha-crystallin chaperone activity: a target to prevent or delay cataract?

Kumar PA et al.

Iubmb Life, 2009

Identification of differentially regulated proteins in a patient with Leber's Congenital Amaurosis--a proteomic study.

Vorum H et al.

Proteome 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."