Varaico: Literature-Extracted Genetic Variants

Gene:JAK1
Variant:p.V658F
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JAK1

NM_002227.4:p.V658F

Associated Papers

Allosteric inhibition of JAK2 with lysine-reactive compounds that bind the pseudokinase domain.

Primi MC et al.

European Journal of Medicinal Chemistry, 2026

Low-VAF TP53-Mutated AML Displays Distinct Biological Features in a Single-Center Cohort.

Lu X et al.

Biomedicines, 2026

41595714 (PubMed )
Supplement: biomedicines-14-00180-s001.zip › biomedicines-4047568-supplementary.pdf

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

Genomic and Clinicopathological Characterization of CRLF2-Rearranged Mixed Phenotype Acute Leukemia.

Han L et al.

Pediatric Blood & Cancer, 2025

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

Djidjik R et al.

Frontiers in Immunology, 2025

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

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

Comparison between next-generation sequencing and multiplex polymerase chain reaction assays for nonsmall-cell lung cancer molecular diagnosis.

Murakami S et al.

Cancer Medicine, 2024

38572952 (PubMed )
Supplement: CAM4-13-e7162-s003.xlsx › DNA_mutations

Targetable lesions and proteomes predict therapy sensitivity through disease evolution in pediatric acute lymphoblastic leukemia.

Lorentzian AC et al.

Nature Communications, 2023

37989729 (PubMed )
Supplement: 41467_2023_42701_MOESM5_ESM.xlsx › 2.BCCH_Genomic_Data

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

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

Palmitoylation-dependent control of JAK1 kinase signaling governs responses to neuropoietic cytokines and survival in DRG neurons.

Hernandez LM et al.

The Journal of Biological Chemistry, 2023

JAK1 Pseudokinase V666G Mutant Dominantly Impairs JAK3 Phosphorylation and IL-2 Signaling.

Grant AH et al.

International Journal of Molecular Sciences, 2023

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

Coelho MA et al.

Cancer Cell, 2023

Venetoclax durable response in adult relapsed/refractory Philadelphia-negative acute lymphoblastic leukemia with JAK/STAT pathway alterations.

Ferrari A et al.

Frontiers in Cell and Developmental Biology, 2023

Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Cheng WY et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36442087 (PubMed )
Supplement: pnas.2211429119.sd02.xlsx › snv_indel

Identification of Altered Primary Immunodeficiency-Associated Genes and Their Implications in Pediatric Cancers.

Standing S et al.

Cancers, 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

36251721 (PubMed )
Supplement: pgen.1010300.s005.xlsx › targetSetB_summary

JAK2-V617F is a negative regulation factor of SHIP1 protein and thus influences the AKT signaling pathway in patients with Myeloproliferative neoplasm (MPN).

Glück M et al.

The International Journal of Biochemistry & Cell Biology, 2022

In vivo inducible reverse genetics in patients' tumors to identify individual therapeutic targets.

Carlet M et al.

Nature Communications, 2021

34580292 (PubMed )
Supplement: 41467_2021_25963_MOESM2_ESM.pdf

Activating JAK-mutations confer resistance to FLT3 kinase inhibitors in FLT3-ITD positive AML in vitro and in vivo.

Rummelt C et al.

Leukemia, 2021

Untwining Anti-Tumor and Immunosuppressive Effects of JAK Inhibitors-A Strategy for Hematological Malignancies?

Klein K et al.

Cancers, 2021

Deregulation of the Interleukin-7 Signaling Pathway in Lymphoid Malignancies.

Lodewijckx I et al.

Pharmaceuticals (basel, Switzerland), 2021

Genetic Alterations and Therapeutic Targeting of Philadelphia-Like Acute Lymphoblastic Leukemia.

Iacobucci I et al.

Genes, 2021

PDX models reflect the proteome landscape of pediatric acute lymphoblastic leukemia but divert in select pathways.

Uzozie AC et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2021

Janus Kinase Mutations in Mice Lacking PU.1 and Spi-B Drive B Cell Leukemia through Reactive Oxygen Species-Induced DNA Damage.

Lim M et al.

Molecular and Cellular Biology, 2020

NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Bertucci F et al.

Molecular Oncology, 2020

31854063 (PubMed )
Supplement: MOL2-14-504-s010.xlsx › TableS3

Characterization of JAK1 Pseudokinase Domain in Cytokine Signaling.

Raivola J et al.

Cancers, 2019

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

Wahnschaffe L et al.

Cancers, 2019

Enzymatic Characterization of Wild-Type and Mutant Janus Kinase 1.

Liau NPD et al.

Cancers, 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

Discovery and Structural Characterization of ATP-Site Ligands for the Wild-Type and V617F Mutant JAK2 Pseudokinase Domain.

McNally R et al.

Acs Chemical Biology, 2019

BCR/ABL1-like acute lymphoblastic leukemia: How to diagnose and treat?

Chiaretti S et al.

Cancer, 2019

Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.

MacFarland SP et al.

Jco Precision Oncology, 2019

Tumor Variant Identification That Accounts for the Unique Molecular Landscape of Pediatric Malignancies.

Lorentzian A et al.

Jnci Cancer Spectrum, 2018

30976750 (PubMed )
Supplement: pky079_supp.pdf

Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.

Rusch M et al.

Nature Communications, 2018

30262806 (PubMed )
Supplement: 41467_2018_6485_MOESM10_ESM.xlsx › 7A.ALL_PATHOLOGIC_FINDINGS

DKK2 imparts tumor immunity evasion through β-catenin-independent suppression of cytotoxic immune-cell activation.

Xiao Q et al.

Nature Medicine, 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 › a__Freq_TP094

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

Genomic Profiling of T-Cell Neoplasms Reveals Frequent JAK1 and JAK3 Mutations With Clonal Evasion From Targeted Therapies.

Greenplate A et al.

Jco Precision Oncology, 2018

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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."