Varaico: Literature-Extracted Genetic Variants

Gene:STAT5B
Variant:p.T628S
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STAT5B

NM_012448.4:p.T628S

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

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

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S3

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

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

Djidjik R et al.

Frontiers in Immunology, 2025

41438753 (PubMed )
Supplement: Table1.pdf

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

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

Somatic mutations associate with clonal expansion of CD8+ T cells.

Lundgren S et al.

Science Advances, 2024

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

Pro-inflammatory cells sustain leukemic clonal expansion in T-cell large granular lymphocyte leukemia.

Vicenzetto C et al.

Haematologica, 2024

37439335 (PubMed )
Supplement: 2022_282306_VICENZETTO_SUPPL.pdf

TP53 mutations identify high-risk events for peripheral T-cell lymphoma treated with CHOP-based chemotherapy.

Johnson WT et al.

Blood Advances, 2023

37078708 (PubMed )
Supplement: BLOODA_ADV-2023-009953-mmc1.xlsx › S1B_PTCL-NOS_mutations_

Monomorphic epitheliotropic intestinal T-cell lymphoma comprises morphologic and genomic heterogeneity impacting outcome.

Veloza L et al.

Haematologica, 2023

35708139 (PubMed )
Supplement: 2022_281226_VELOZA_SUPPL.pdf

Activating STAT5B mutations can cause both primary hypereosinophilia and lymphocyte-variant hypereosinophilia.

Umrau K et al.

Leukemia & Lymphoma, 2023

Targeted panel sequencing in the routine diagnosis of mature T- and NK-cell lymphomas: report of 128 cases from two German reference centers.

Böck J et al.

Frontiers in Oncology, 2023

37664054 (PubMed )
Supplement: Table_1.xlsx › Table_S2

Identification of novel STAT5B mutations and characterization of TCRβ signatures in CD4+ T-cell large granular lymphocyte leukemia.

Bhattacharya D et al.

Blood Cancer Journal, 2022

Expanding diagnostic criteria: Multiorgan T-Cell/myeloid mixed phenotype acute leukemia with t(v;11q23) KMT2A-rearrangement successfully treated by allogeneic stem cell transplant.

Syed S et al.

Leukemia Research Reports, 2022

Mutation signatures of pediatric acute myeloid leukemia and normal blood progenitors associated with differential patient outcomes.

Brandsma AM et al.

Blood Cancer Discovery, 2021

34642666 (PubMed )
Supplement: bloodcandisc-2-484-s002.xlsx › ST1

STAT3 and STAT5B mutations have unique distribution in T-cell large granular lymphocyte proliferations and advanced myeloid neoplasms.

Qu S et al.

Leukemia & Lymphoma, 2021

Somatic mutations and T-cell clonality in patients with immunodeficiency.

Savola P et al.

Haematologica, 2020

JAK/STAT-Activating Genomic Alterations Are a Hallmark of T-PLL.

Wahnschaffe L et al.

Cancers, 2019

Structural Implications of STAT3 and STAT5 SH2 Domain Mutations.

de Araujo ED et al.

Cancers, 2019

STAT5A and STAT5B-Twins with Different Personalities in Hematopoiesis and Leukemia.

Maurer B et al.

Cancers, 2019

Pervasive mutations of JAK-STAT pathway genes in classical Hodgkin lymphoma.

Tiacci E et al.

Blood, 2018

Discovery of novel drug sensitivities in T-PLL by high-throughput ex vivo drug testing and mutation profiling.

Andersson EI et al.

Leukemia, 2018

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › c__Freq_TP092

Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2.

Moffitt AB et al.

The Journal of Experimental Medicine, 2017

28424246 (PubMed )
Supplement: JEM_20160894_TableS1-S10.xlsx › Table_S1._Variants

The Genetic Basis of Hepatosplenic T-cell Lymphoma.

McKinney M et al.

Cancer Discovery, 2017

Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

Richter-Pechańska P et al.

Blood Cancer Journal, 2017

28157215 (PubMed )
Supplement: bcj20173x11.xlsx › SNVsInDelsCalled_in214Pts

Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations.

Roberti A et al.

Nature Communications, 2016

Genes encoding members of the JAK-STAT pathway or epigenetic regulators are recurrently mutated in T-cell prolymphocytic leukaemia.

López C et al.

British Journal of Haematology, 2016

Integrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia.

Kiel MJ et al.

Blood, 2014

Felty's syndrome.

Louie JS et al.

Seminars in Hematology, 1971

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