Varaico: Literature-Extracted Genetic Variants

Gene:STAT5B
Variant:p.N642H
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STAT5B

NM_012448.4:p.N642H

Associated Papers

Mosaic variants in KRAS and STAT5B associated with a mixed phenotype of 2 acquired errors of immunity.

Forkgen J et al.

The Journal of Allergy and Clinical Immunology, 2026

Divergent molecular pathways drive monomorphic epitheliotropic and enteropathy-associated intestinal T-cell lymphoma.

Vallois D et al.

Leukemia, 2026

41057685 (PubMed )
Supplement: 41375_2025_2777_MOESM2_ESM.xlsx › S1-WES_mutations_table

Genomic profiles of myelodysplastic neoplasm with bone marrow eosinophilia or basophilia: Inflammatory drivers and DNA damage response.

Jung Y et al.

Leukemia Research, 2026

Somatic STAT5BN642H mutations shape variable immune landscapes resulting in heterogenous immune diseases.

Grün S et al.

The Journal of Allergy and Clinical Immunology, 2025

Disease-associated mutations in the STAT5B SH2 domain reprogram hepatic cholesterol and lipid metabolism.

Lee HK et al.

Biorxiv : the Preprint Server for Biology, 2025

Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.

Voss RK et al.

Leukemia, 2025

41057686 (PubMed )
Supplement: 41375_2025_2774_MOESM2_ESM.xlsx › S3_-_SNVs__small_INDELS

Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.

Krigstein M et al.

Annals of Laboratory Medicine, 2025

41277019 (PubMed )
Supplement: ALM3692_Supple1.xlsx › Reference_Standard

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

The Prognostic Role of STAT5B Across Cancer Types and Comparative Analysis with STAT5A: A Systematic Review.

Maninang C et al.

Biomolecules, 2025

Transcriptomic landscape of CD8+ and CD4 + T-LGL leukemia revealed the distinct impact of STAT3 and STAT5B activating mutations.

Calabretto G et al.

Leukemia, 2025

Mosaic STAT5B gain-of-function associated with demyelinating disease and autoimmunity.

Schmitt EG et al.

Journal of Human Immunity, 2025

Crescentic glomerulonephritis associated with NK-large granular lymphocytic leukemia: A case report.

Luo Z et al.

Medicine, 2025

STAT5B leukemic mutations, altering SH2 tyrosine 665, have opposing impacts on immune gene programs.

Lee HK et al.

Life Science Alliance, 2025

Mutation-induced rigidity in the Fyn SH2 domain enhances pY-binding affinity at the cost of peptide specificity.

Deng L et al.

Physical Chemistry Chemical Physics : Pccp, 2025

Inborn Errors of Immunity in Apoptosis.

Makkoukdji N et al.

Frontiers in Bioscience (landmark Edition), 2025

Inborn errors of immunity underlie clonal T cell expansions in large granular lymphocyte leukemia.

Bravo-Perez C et al.

The Journal of Clinical Investigation, 2025

40309770 (PubMed )
Supplement: jci-135-184431-s106.xlsx › Table_S5

Single-cell sequencing reveals shared clonal signatures in nonmalignant B and tumor cells in T-prolymphocytic leukemia.

Hesselager C et al.

Blood Neoplasia, 2025

Somatic mosaicism in genetic errors of immunity.

Cooper MA

The Journal of Allergy and Clinical Immunology, 2025

Novel ETV6::RAPGEF6 fusion gene in chronic eosinophilic leukemia: compiling evidence on the role of IL3 overexpression in tumorigenesis.

Iberti M et al.

Annals of Hematology, 2025

Mutational heterogeneities in STAT3 and clonal hematopoiesis-related genes in acquired pure red cell aplasia.

Kawakami T et al.

Annals of Hematology, 2025

40202536 (PubMed )
Supplement: 277_2025_6356_MOESM4_ESM.xlsx › S9

Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.

Hoffmann M et al.

Scientific Reports, 2025

T-cell Large Granular Lymphocytic Leukemia with a STAT3 Mutation Successfully Treated with Cord Blood Transplantation.

Tokunaga Y et al.

Internal Medicine (tokyo, Japan), 2025

JAK-STAT signaling pathway, immunodeficiency, inflammation, immune dysregulation, and inborn errors of immunity.

Samra S et al.

The Journal of Allergy and Clinical Immunology, 2025

The structural influence of the oncogenic driver mutation N642H in the STAT5B SH2 domain.

Haas-Neill L et al.

Protein Science : a Publication of the Protein Society, 2025

Recurrent Missense Driver STAT5B N642H Mutation in Children Transiting into Adolescence, with Acute Lymphoid Leukemia and its In silico Inhibition.

Yasmin R et al.

Anti-cancer Agents in Medicinal Chemistry, 2025

T-cell prolymphocytic leukemia, a case report and review of the literature.

GONZáLEZ-RODRíGUEZ LM et al.

Oncology Research, 2025

Asymptomatic T prolymphocytic leukemia: case report and literature review.

Honorato Junior LFB et al.

Einstein (sao Paulo, Brazil), 2025

JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.

Djidjik R et al.

Frontiers in Immunology, 2025

STAT5B leukemic mutations, altering SH2 tyrosine 665, have opposing impacts on immune gene programs.

Lee HK et al.

Biorxiv : the Preprint Server for Biology, 2024

Eosinophilia with STAT5BN642H Mutation: A Heterogeneous Entity with Overlapping Morphological Features and Poor Outcome

Shashidhar V et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2024

Dual specific STAT3/5 degraders effectively block acute myeloid leukemia and natural killer/T cell lymphoma.

Pölöske D et al.

Hemasphere, 2024

39619245 (PubMed )
Supplement: HEM3-8-e70001-s028.docx

Investigation of the mutations in the genes involved in Janus kinase/signal transducer and activator of transcription pathway in canine large cell gastrointestinal lymphoma.

Tsuruta T et al.

The Journal of Veterinary Medical Science, 2024

GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.

Ikeuchi H et al.

Oncogene, 2024

39095584 (PubMed )
Supplement: 41388_2024_3105_MOESM2_ESM.xlsx › Supplementary_Table_S6

PIM1 is a potential therapeutic target for the leukemogenic effects mediated by JAK/STAT pathway mutations in T-ALL/LBL.

Lahera A et al.

Npj Precision Oncology, 2024

39033228 (PubMed )
Supplement: 41698_2024_638_MOESM1_ESM.pdf

Oncogenic and immunological targets for matched therapy of pediatric blood cancer patients: Dutch iTHER study experience.

Boer JM et al.

Hemasphere, 2024

39011126 (PubMed )
Supplement: HEM3-8-e122-s003.pdf

STAT5B mutations in myeloid neoplasms differ by disease subtypes but characterize a subset of chronic myeloid neoplasms with eosinophilia and/or basophilia.

Yin CC et al.

Haematologica, 2024

Involvement of the JAK-STAT pathway in the molecular landscape of tyrosine kinase fusion-negative hypereosinophilic syndromes: A nationwide CEREO study.

Groh M et al.

American Journal of Hematology, 2024

Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.

Kandarpa M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38386293 (PubMed )
Supplement: ccr-23-0372_supplemental_table_2_suppst2.xlsx › Suppl._Table_2

Hyperactive STAT5 hijacks T cell receptor signaling and drives immature T cell acute lymphoblastic leukemia.

Suske T et al.

The Journal of Clinical Investigation, 2024

Clinicopathological and molecular genetic alterations in monomorphic-epitheliotropic intestinal T-cell lymphoma of the small intestine.

Zhou B et al.

European Journal of Medical Research, 2024

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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."