Varaico: Literature-Extracted Genetic Variants

Gene:NSD2
Variant:p.E1099K
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NSD2

NM_001042424.3:p.E1099K

Associated Papers

Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.

Colin-Leitzinger C et al.

Human Genomics, 2025

41331781 (PubMed )
Supplement: 40246_2025_847_MOESM1_ESM.pdf

NSD Family-Mediated H3K36 Methylation in Human Cancer: Mechanisms and Therapeutic Opportunities.

Park JE et al.

Biomedicines, 2025

Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.

Li Y et al.

British Journal of Haematology, 2025

40958529 (PubMed )
Supplement: supplement_1.zip › Table_S3.xlsx › Sheet1

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.

Umeda M et al.

Blood, 2025

40700635 (PubMed )
Supplement: BLOOD_BLD-2025-028993-mmc2.xlsx › Supplementary_Table_6

Tumor evolution and immune microenvironment dynamics in primary and relapsed mantle cell lymphoma.

Wan H et al.

Cell Reports. Medicine, 2025

40876452 (PubMed )
Supplement: mmc2.xlsx › TableS3._Nonsilent_mutations

Structural and Molecular Insight into the PWWP1 Domain of NSD2 from the Discovery of Novel Binders Via DNA-Encoded Library Screening.

Collie GW et al.

Acs Medicinal Chemistry Letters, 2025

Age-Driven Genetic and Epigenetic Heterogeneity in B-ALL.

Veselinova Y et al.

International Journal of Molecular Sciences, 2025

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

Nuclear Receptor-Binding SU(VAR)3-9, Enhancer of Zeste, Trithorax Domain Structural Domain Protein 2 Serves as a Potential Prognostic Biomarker in Mantle Cell Lymphoma.

Zhu Y et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2025

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.

Esai Selvan M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40778119 (PubMed )
Supplement: media-2.pdf

A Comprehensive Review of Somatic and Germline Biomarkers Associated with Childhood B-Cell Precursor Acute Lymphoblastic Leukemia: From Biological Significance to Precision Medicine Opportunities.

Martínez Anaya D et al.

Biomedicines, 2025

40722698 (PubMed )
Supplement: biomedicines-13-01626-s001.zip › biomedicines-3668022-supplementary.pdf

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc12.xlsx › Sheet1

Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.

Wegert J et al.

Genome Medicine, 2025

40340749 (PubMed )
Supplement: 13073_2025_1482_MOESM1_ESM.xlsx › Table_S2

How to combine multiple tools for the genetic diagnosis work-up of pediatric B-cell acute lymphoblastic leukemia.

Hidalgo-Gómez G et al.

Annals of Hematology, 2025

39843811 (PubMed )
Supplement: 277_2024_6151_MOESM1_ESM.xlsx › S1._Genetics_data

Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.

Colin-Leitzinger C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40166537 (PubMed )
Supplement: media-1.pdf

Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.

Aertgeerts M et al.

Hemasphere, 2025

Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.

Umeda M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974131 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_6

The C-terminal PHDVC5HCH tandem domain of NSD2 is a combinatorial reader of unmodified H3K4 and tri-methylated H3K27 that regulates transcription of cell adhesion genes in multiple myeloma.

Berardi A et al.

Nucleic Acids Research, 2025

Genetic characterization of pediatric B-cell acute lymphoblastic leukemia in Argentina uncovers molecular heterogeneity and novel variants.

Sol Ruiz M et al.

Frontiers in Pharmacology, 2025

41333018 (PubMed )
Supplement: Supplementaryfile1.xlsx › 2.RNAmut_results_SNV_Indel

Recruitment of FBXO22 for targeted degradation of NSD2.

Nie DY et al.

Nature Chemical Biology, 2024

Comprehensive Target Engagement by the EZH2 Inhibitor Tulmimetostat Allows for Targeting of ARID1A Mutant Cancers.

Keller PJ et al.

Cancer Research, 2024

38833522 (PubMed )
Supplement: can-24-0398_supplementary_figure_s1_suppsf1.pdf

Gene expression prognostic of early relapse risk in low-risk B-cell acute lymphoblastic leukaemia in children.

Gong X et al.

Ejhaem, 2024

Methylation of histone H3 lysine 36 is a barrier for therapeutic interventions of head and neck squamous cell carcinoma.

Caeiro LD et al.

Genes & Development, 2024

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

Nishi E et al.

Molecular Genetics & Genomic Medicine, 2024

Structural insights into the C-terminus of the histone-lysine N-methyltransferase NSD3 by small-angle X-ray scattering.

Belviso BD et al.

Frontiers in Molecular Biosciences, 2024

Recruitment of FBXO22 for Targeted Degradation of NSD2.

Nie DY et al.

Biorxiv : the Preprint Server for Biology, 2023

Methylation of histone H3 lysine 36 is a barrier for therapeutic interventions of head and neck squamous cell carcinoma.

Caeiro LD et al.

Biorxiv : the Preprint Server for Biology, 2023

Identification of novel class inhibitors of NSD3 methyltransferase showing a unique, bivalent binding mode in the SET domain.

Kim S et al.

Chemical Biology & Drug Design, 2023

Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in Childhood ETV6::RUNX1+ and High Hyperdiploid Acute Lymphoblastic Leukemia.

Brandes D et al.

Hemasphere, 2023

37469802 (PubMed )
Supplement: hs9-7-e925-s001.xlsx › Table_S5_

The T1150A cancer mutant of the protein lysine dimethyltransferase NSD2 can introduce H3K36 trimethylation.

Khella MS et al.

The Journal of Biological Chemistry, 2023

The engagement of histone lysine methyltransferases with nucleosomes: structural basis, regulatory mechanisms, and therapeutic implications.

Li Y et al.

Protein & Cell, 2023

Discovery of a Potent and Selective Targeted NSD2 Degrader for the Reduction of H3K36me2.

Hanley RP et al.

Journal of the American Chemical Society, 2023

NSD2 E1099K drives relapse in pediatric acute lymphoblastic leukemia by disrupting 3D chromatin organization.

Narang S et al.

Genome Biology, 2023

The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.

Popp B et al.

Clinical Genetics, 2023

A specific G9a inhibitor unveils BGLT3 lncRNA as a universal mediator of chemically induced fetal globin gene expression.

Takase S et al.

Nature Communications, 2023

36635268 (PubMed )
Supplement: 41467_2022_35404_MOESM1_ESM.pdf

Gain-of-Function Variomics and Multi-omics Network Biology for Precision Medicine.

Li MM et al.

Methods in Molecular Biology (clifton, N.j.), 2023

Whole-genome informed circulating tumor DNA analysis by multiplex digital PCR for disease monitoring in B-cell lymphomas: a proof-of-concept study.

Haider Z et al.

Frontiers in Oncology, 2023

37333831 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Crouch S et al.

Blood Advances, 2022

35363872 (PubMed )
Supplement: BLOODA_ADV-2021-005284-mmc1.xlsx › S2_DLBCL_SNV

How Genetics and Genomics Advances Are Rewriting Pediatric Cancer Research and Clinical Care.

Cipri S et al.

Medicina (kaunas, Lithuania), 2022

Adult Wilms Tumor: Genetic Evidence of Origin of a Subset of Cases From Metanephric Adenoma.

Argani P et al.

The American Journal of Surgical Pathology, 2022

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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."