Varaico: Literature-Extracted Genetic Variants

Gene:RUVBL1
Variant:p.E303Q
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RUVBL1

NM_003707.3:p.E303Q

Associated Papers

NOPCHAP1 is a PAQosome cofactor that helps loading NOP58 on RUVBL1/2 during box C/D snoRNP biogenesis.

Abel Y et al.

Nucleic Acids Research, 2021

Regulation of RUVBL1-RUVBL2 AAA-ATPases by the nonsense-mediated mRNA decay factor DHX34, as evidenced by Cryo-EM.

López-Perrote A et al.

Elife, 2020

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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."