Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.T875N
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JAK2

NM_004972.4:p.T875N

Associated Papers

Nucleotide Substitution Biases in Related Cancer Driver Genes.

Khadre A et al.

International Journal of Molecular Sciences, 2025

A Phase I/II Trial of Ruxolitinib with Chemotherapy for Patients with Relapsed and/or Refractory Philadelphia-like Acute Lymphoblastic Leukemia.

Goulart H et al.

Clinical Lymphoma, Myeloma & Leukemia, 2025

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

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Molecular landscape and clinical outcome of SRSF2/TET2 Co-mutated myeloid neoplasms.

Cockey SG et al.

Leukemia & Lymphoma, 2025

Insights into the role of JAK2-I724T variant in myeloproliferative neoplasms from a unique cohort of New Zealand patients.

Puli'uvea C et al.

Hematology (amsterdam, Netherlands), 2024

RNA-seq-based miRNA signature as an independent predictor of relapse in pediatric B-cell acute lymphoblastic leukemia.

Kubota H et al.

Blood Advances, 2024

38127276 (PubMed )
Supplement: BLOODA_ADV-2023-011583-mmc1.xlsx › Sup.11

Genetic background of thrombocytosis in mice mimicking hereditary thrombocytosis in humans.

Kimura H et al.

Platelets, 2023

A novel germline hyperactivating JAK2 mutation L604F.

Dvořáček L et al.

Annals of Hematology, 2023

Structural Analysis of Janus Tyrosine Kinase Variants in Hematological Malignancies: Implications for Drug Development and Opportunities for Novel Therapeutic Strategies.

Rodriguez Moncivais OJ et al.

International Journal of Molecular Sciences, 2023

Next-Generation JAK2 Inhibitors for the Treatment of Myeloproliferative Neoplasms: Lessons from Structure-Based Drug Discovery Approaches.

Nair PC et al.

Blood Cancer Discovery, 2023

JAK2 p.V617F Variants in Non-Blood DNA from Patients with Polycythemia Vera

Mori N et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2023

Clinical Characteristics and Outcomes of Patients with Primary and Secondary Myelofibrosis According to the Genomic Classification Using Targeted Next-Generation Sequencing.

Garrote M et al.

Cancers, 2023

Identification of putative noncanonical driver mutations in patients with essential thrombocythemia.

Arai A et al.

European Journal of Haematology, 2023

Characterization of myeloproliferative neoplasms in the paediatric and young adult population.

Harris Z et al.

British Journal of Haematology, 2023

Genetic basis and molecular profiling in myeloproliferative neoplasms.

Luque Paz D et al.

Blood, 2023

Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.

Cheng CK et al.

Communications Biology, 2023

37002311 (PubMed )
Supplement: 42003_2023_4732_MOESM5_ESM.xlsx › Supplementary_Data_2

Recurrent germline variant in ATM associated with familial myeloproliferative neoplasms.

Braunstein EM et al.

Leukemia, 2023

The kinetics of blast clearance are associated with copy number alterations in childhood B-cell acute lymphoblastic leukemia.

Urbańska Z et al.

Neoplasia (new York, N.y.), 2023

Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis.

Lemoine S et al.

Haematologica, 2022

RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL).

Rehn J et al.

Plos Genetics, 2022

Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.

Tran TH et al.

Blood Advances, 2022

34933343 (PubMed )
Supplement: advancesADV2021005634-suppl1.xlsx › S3_Mutation_details

Hereditary thrombocytosis: the genetic landscape.

Han EY et al.

British Journal of Haematology, 2021

Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.

Stockklausner C et al.

Annals of Hematology, 2021

Functional Consequences of Mutations in Myeloproliferative Neoplasms.

Constantinescu SN et al.

Hemasphere, 2021

New progress in the study of germline susceptibility genes of myeloid neoplasms.

Bi L et al.

Oncology Letters, 2021

Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.

Montaño A et al.

Journal of Personalized Medicine, 2020

Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.

Yasuda T et al.

Cancer Science, 2020

32619037 (PubMed )
Supplement: CAS-111-3367-s004.xlsx › Sup.Table4

A novel targeted RNA-Seq panel identifies a subset of adult patients with acute lymphoblastic leukemia with BCR-ABL1-like characteristics.

Sánchez R et al.

Blood Cancer Journal, 2020

32332702 (PubMed )
Supplement: 41408_2020_308_MOESM2_ESM.xlsx › Hoja1

Essential thrombocytosis attributed to JAK2-T875N germline mutation.

Yoshimitsu M et al.

International Journal of Hematology, 2019

Roles of T875N somatic mutation in the activity, structural stability of JAK2 and the transformation of OCI-AML3 cells.

Chen C et al.

International Journal of Biological Macromolecules, 2019

Differential effect of inhibitory strategies of the V617 mutant of JAK2 on cytokine receptor signaling.

Leroy E et al.

The Journal of Allergy and Clinical Immunology, 2019

Janus kinase 2 activation mechanisms revealed by analysis of suppressing mutations.

Hammarén HM et al.

The Journal of Allergy and Clinical Immunology, 2019

Surface expression of Cytokine Receptor-Like Factor 2 increases risk of relapse in pediatric acute lymphoblastic leukemia patients harboring IKZF1 deletions.

Pastorczak A et al.

Oncotarget, 2018

[Spectrum of somatic mutations and their prognostic significance in adult patients with B cell acute lymphoblastic leukemia].

Feng J et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2018

Inhibition of mTORC1/C2 signaling improves anti-leukemia efficacy of JAK/STAT blockade in CRLF2 rearranged and/or JAK driven Philadelphia chromosome-like acute B-cell lymphoblastic leukemia.

Zhang Q et al.

Oncotarget, 2018

Integrated genomic DNA/RNA profiling of hematologic malignancies in the clinical setting.

He J et al.

Blood, 2016

Uncoupling JAK2 V617F activation from cytokine-induced signalling by modulation of JH2 αC helix.

Leroy E et al.

The Biochemical Journal, 2016

Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia.

Ma X et al.

Nature Communications, 2015

25790293 (PubMed )
Supplement: ncomms7604-s1.pdf

JAK2 tyrosine kinase phosphorylates and is negatively regulated by centrosomal protein Ninein.

Jay J et al.

Molecular and Cellular Biology, 2015

Molecular basis for pseudokinase-dependent autoinhibition of JAK2 tyrosine kinase.

Shan Y et al.

Nature Structural & Molecular Biology, 2014

Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia.

Mar BG et al.

Nature Communications, 2014

24662245 (PubMed )
Supplement: NIHMS568254-supplement-1.pdf
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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."