Varaico: Literature-Extracted Genetic Variants

Gene:SMG6
Variant:p.D1251A
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SMG6

NM_017575.5:p.D1251A

Associated Papers

LncRNA HOTAIRM1 functions in DNA double-strand break repair via its association with DNA repair and mRNA surveillance factors.

Chuang TW et al.

Nucleic Acids Research, 2023

SMG6 cleavage generates metastable decay intermediates from nonsense-containing β-globin mRNA.

Mascarenhas R et al.

Plos One, 2013

SMG6 promotes endonucleolytic cleavage of nonsense mRNA in human cells.

Eberle AB et al.

Nature Structural & Molecular Biology, 2009

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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."