Varaico: Literature-Extracted Genetic Variants

Gene:IGF2BP2
Variant:p.E70A
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IGF2BP2

NM_006548.6:p.E70A

Associated Papers

Cataract-causing variant Q70P damages structural stability of βB1-crystallin and increases its tendency to form insoluble aggregates.

Zhang Y et al.

International Journal of Biological Macromolecules, 2023

PB1 domain interaction of p62/sequestosome 1 and MEKK3 regulates NF-kappaB activation.

Nakamura K et al.

The Journal of Biological Chemistry, 2010

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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."