Varaico: Literature-Extracted Genetic Variants

Gene:NSUN2
Variant:p.K190M
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NSUN2

NM_017755.6:p.K190M

Associated Papers

NSUN2 facilitates DICER cleavage of DNA damage-associated R-loops to promote repair.

Alagia A et al.

Nature Communications, 2025

Loss of 5-methylcytosine alters the biogenesis of vault-derived small RNAs to coordinate epidermal differentiation.

Sajini AA et al.

Nature Communications, 2019

Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders.

Blanco S et al.

The Embo Journal, 2014

Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.

Khan MA et al.

American Journal of Human Genetics, 2012

The nucleolar RNA methyltransferase Misu (NSun2) is required for mitotic spindle stability.

Hussain S et al.

The Journal of Cell 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."