Varaico: Literature-Extracted Genetic Variants

Gene:NSUN2
Variant:p.G679R
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NSUN2

NM_017755.6:p.G679R

Associated Papers

Mitochondrial dynamics dysfunction and neurodevelopmental disorders: From pathological mechanisms to clinical translation.

Yang Z et al.

Neural Regeneration Research, 2026

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.

Corbett RJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary

Spatial regulation of NSUN2-mediated tRNA m5C installation in cognitive function.

Gonskikh Y et al.

Nucleic Acids Research, 2025

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms.

Muhammad N et al.

Frontiers in Neurology, 2023

Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree.

Sun S et al.

Molecular Genetics & Genomic Medicine, 2020

High-depth African genomes inform human migration and health.

Choudhury A et al.

Nature, 2020

33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19

NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs.

Van Haute L et al.

Nucleic Acids Research, 2019

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

Khan MA et al.

American Journal of Human Genetics, 2012

Mapping and significance of the mRNA methylome.

Sibbritt T et al.

Wiley Interdisciplinary Reviews. Rna, 0

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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."