Varaico: Literature-Extracted Genetic Variants

Gene:RHBDD1
Variant:p.G226D
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RHBDD1

NM_001167608.3:p.G226D

Associated Papers

Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translation.

Sterrett MC et al.

Rna (new York, N.y.), 2025

Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translation.

Sterrett MC et al.

Biorxiv : the Preprint Server for Biology, 2025

In vivo characterization of the critical interaction between the RNA exosome and the essential RNA helicase Mtr4 in Saccharomyces cerevisiae.

Sterrett MC et al.

G3 (bethesda, Md.), 2023

A budding yeast model for human disease mutations in the EXOSC2 cap subunit of the RNA exosome complex.

Sterrett MC et al.

Rna (new York, N.y.), 2021

Dsc E3 ligase localization to the Golgi requires the ATPase Cdc48 and cofactor Ufd1 for activation of sterol regulatory element-binding protein in fission yeast.

Burr R et al.

The Journal of Biological Chemistry, 2017

Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast.

Fasken MB et al.

Genetics, 2017

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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."