Varaico: Literature-Extracted Genetic Variants

Gene:NSD2
Variant:p.R557Q
Back to variants list

NSD2

NM_001042424.3:p.R557Q

Associated Papers

Integrating genomic and transcriptome features for characterization and prognostic prediction of angioimmunoblastic T-cell lymphoma.

Wei C et al.

Annals of Hematology, 2025

40906017 (PubMed )
Supplement: 277_2025_6589_MOESM3_ESM.xlsx › Sheet1

Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.

Nishi E et al.

Molecular Genetics & Genomic Medicine, 2024

Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome.

Yang Q et al.

Frontiers in Pediatrics, 2023

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.

Zanoni P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.

Edwards JJ et al.

Jacc. Basic to Translational Science, 2020

32368696 (PubMed )
Supplement: mmc3.xlsx › Cases

De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Sevim Bayrak C et al.

Genome Medicine, 2020

31941532 (PubMed )
Supplement: 13073_2019_709_MOESM1_ESM.xlsx › S2
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."