Varaico: Literature-Extracted Genetic Variants

Gene:JAK1
Variant:p.Y652H
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JAK1

NM_002227.4:p.Y652H

Associated Papers

Application of Targeted RNA-Sequencing in High-Risk B-Cell Acute Lymphoblastic Leukemia (B-ALL): Identifying Fusions, IKZF1 Deletions, and CRLF2 Expression in an Indian Cohort.

Gupta SK et al.

International Journal of Laboratory Hematology, 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_MOESM1_ESM.pdf

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

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

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 › S4

Genetic evolution and relapse-associated mutations in adult T-cell acute lymphoblastic leukemia patients treated in PETHEMA trials.

González-Gil C et al.

Hemasphere, 2025

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

Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.

López Rivera JJ et al.

Journal of Personalized Medicine, 2024

39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2

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

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Clinical features and prognosis of pediatric acute lymphocytic leukemia with JAK-STAT pathway genetic abnormalities: a case series.

Hu M et al.

Annals of Hematology, 2023

Design and Validation of a Custom Next-Generation Sequencing Panel in Pediatric Acute Lymphoblastic Leukemia.

Gil JV et al.

International Journal of Molecular Sciences, 2023

36901871 (PubMed )
Supplement: ijms-24-04440-s001.zip › Supplemental_Tables_V2.xlsx › Supplemental_Table_2

Base editing screens map mutations affecting interferon-γ signaling in cancer.

Coelho MA et al.

Cancer Cell, 2023

36669486 (PubMed )
Supplement: mmc4.xlsx › BE_variants_-clinical_relevance

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

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

Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.

Meyers S et al.

Hemasphere, 2022

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1

Routine next generation sequencing of lymphoid malignancies: clinical utility and challenges from a 3-Year practical experience.

Pillonel V et al.

Leukemia & Lymphoma, 2020

Capture-based Next-Generation Sequencing Improves the Identification of Immunoglobulin/T-Cell Receptor Clonal Markers and Gene Mutations in Adult Acute Lymphoblastic Leukemia Patients Lacking Molecular Probes.

Cavagna R et al.

Cancers, 2020

[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

Identification of a novel functional JAK1 S646P mutation in acute lymphoblastic leukemia.

Li Q et al.

Oncotarget, 2017

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

Roberti A et al.

Nature Communications, 2016

27600764 (PubMed )
Supplement: ncomms12602-s1.pdf

Cooperating JAK1 and JAK3 mutants increase resistance to JAK inhibitors.

Springuel L et al.

Blood, 2014

Mutation of the receptor tyrosine phosphatase PTPRC (CD45) in T-cell acute lymphoblastic leukemia.

Porcu M et al.

Blood, 2012

PTPN2 negatively regulates oncogenic JAK1 in T-cell acute lymphoblastic leukemia.

Kleppe M et al.

Blood, 2011

Oncogenic JAK1 and JAK2-activating mutations resistant to ATP-competitive inhibitors.

Hornakova T et al.

Haematologica, 2011

ALL-associated JAK1 mutations confer hypersensitivity to the antiproliferative effect of type I interferon.

Hornakova T et al.

Blood, 2010

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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."