Varaico: Literature-Extracted Genetic Variants

Gene:STAT5A
Variant:p.N642H
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STAT5A

NM_001288718.2:p.N642H

Associated Papers

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

Lee HK et al.

Life Science Alliance, 2025

40228864 (PubMed )
Supplement: LSA-2025-03222_TableS2.xlsx › overlapped_genes

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

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

38618957 (PubMed )
Supplement: jci-134-168536-s150.xlsx › Fig._1I

Clinicopathological and molecular genomic features of monomorphic epitheliotropic intestinal T-cell lymphoma in the Chinese population: a study of 20 cases.

Chen C et al.

Diagnostic Pathology, 2021

34895266 (PubMed )
Supplement: 13000_2021_1173_MOESM1_ESM.xlsx › ST1

An updated review on phenocopies of primary immunodeficiency diseases.

Singh A et al.

Genes & Diseases, 2020

LCP1 triggers mTORC2/AKT activity and is pharmacologically targeted by enzastaurin in hypereosinophilia.

Ma G et al.

Molecular Carcinogenesis, 2020

Insights Into Genetic Landscape of Large Granular Lymphocyte Leukemia.

Teramo A et al.

Frontiers in Oncology, 2020

JAK2 ex13InDel drives oncogenic transformation and is associated with chronic eosinophilic leukemia and polycythemia vera.

Patel AB et al.

Blood, 2019

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

Wahnschaffe L et al.

Cancers, 2019

31766351 (PubMed )
Supplement: cancers-11-01833-s001.zip › supplementary_figures_and_tables_S5_and_S7.docx

Defining the molecular basis of oncogenic cooperation between TAL1 expression and Pten deletion in T-ALL using a novel pro-T-cell model system.

Bornschein S et al.

Leukemia, 2018

Mutant JAK3 phosphoproteomic profiling predicts synergism between JAK3 inhibitors and MEK/BCL2 inhibitors for the treatment of T-cell acute lymphoblastic leukemia.

Degryse S et al.

Leukemia, 2018

Mutant JAK3 signaling is increased by loss of wild-type JAK3 or by acquisition of secondary JAK3 mutations in T-ALL.

Degryse S et al.

Blood, 2018

High incidence of activating STAT5B mutations in CD4-positive T-cell large granular lymphocyte leukemia.

Andersson EI et al.

Blood, 2016

Mutations leading to constitutive active gp130/JAK1/STAT3 pathway.

Pilati C et al.

Cytokine & Growth Factor Reviews, 2015

How Intrinsic Molecular Dynamics Control Intramolecular Communication in Signal Transducers and Activators of Transcription Factor STAT5.

Langenfeld F et al.

Plos One, 2015

Discovery of somatic STAT5b mutations in large granular lymphocytic leukemia.

Rajala HL et al.

Blood, 2013

A novel role of CPEB3 in regulating EGFR gene transcription via association with Stat5b in neurons.

Peng SC et al.

Nucleic Acids Research, 2010

The multikinase inhibitor sorafenib induces apoptosis in highly imatinib mesylate-resistant bcr/abl+ human leukemia cells in association with signal transducer and activator of transcription 5 inhibition and myeloid cell leukemia-1 down-regulation.

Rahmani M et al.

Molecular Pharmacology, 2007

Mutational analysis reveals separable DNA binding and trans-activation of Drosophila STAT92E.

Karsten P et al.

Cellular Signalling, 2006

Constitutive activation of zebrafish Stat5 expands hematopoietic cell populations in vivo.

Lewis RS et al.

Experimental Hematology, 2006

Constitutive activation of STAT5 by a point mutation in the SH2 domain.

Ariyoshi K et al.

The Journal of Biological Chemistry, 2000

Constitutively active STAT5A and STAT5B in vitro and in vivo: mutation of STAT5 is not a frequent cause of leukemogenesis.

Yamada K et al.

International Journal of Hematology, 2000

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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."