Varaico: Literature-Extracted Genetic Variants

Gene:RBM8A
Variant:p.L118R
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RBM8A

NM_005105.5:p.L118R

Associated Papers

The stability of Magoh and Y14 depends on their heterodimer formation and nuclear localization.

Ma Q et al.

Biochemical and Biophysical Research Communications, 2019

C-terminal short arginine/serine repeat sequence-dependent regulation of Y14 (RBM8A) localization.

Tatsuno T et al.

Scientific Reports, 2018

A Point Mutation in the Exon Junction Complex Factor Y14 Disrupts Its Function in mRNA Cap Binding and Translation Enhancement.

Chuang TW et al.

The Journal of Biological Chemistry, 2016

Perispeckles are major assembly sites for the exon junction core complex.

Daguenet E et al.

Molecular Biology of the Cell, 2012

Specific Y14 domains mediate its nucleo-cytoplasmic shuttling and association with spliced mRNA.

Kataoka N et al.

Scientific Reports, 2011

A novel mode of RBD-protein recognition in the Y14-Mago complex.

Fribourg S et al.

Nature Structural Biology, 2003

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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."