Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.I682F
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JAK2

NM_004972.4:p.I682F

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

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

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

New scaffolds for type II JAK2 inhibitors overcome the acquired G993A resistance mutation.

Arwood ML et al.

Cell Chemical Biology, 2023

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

Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.

Newman S et al.

Cancer Discovery, 2021

34301788 (PubMed )
Supplement: cd-20-1631_supplementary_tables_suppst1.xlsx › S2.Somatic_Findings_Summary

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

32967112 (PubMed )
Supplement: jpm-10-00137-s001.pdf

JAK2 is dispensable for maintenance of JAK2 mutant B-cell acute lymphoblastic leukemias.

Kim SK et al.

Genes & Development, 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

A novel somatic JAK2 kinase-domain mutation in pediatric acute lymphoblastic leukemia with rapid on-treatment development of LOH.

Sadras T et al.

Cancer Genetics, 2017

Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Vesely C et al.

Leukemia, 2017

27899802 (PubMed )
Supplement: leu2016365x1.docx

CRLF2-Positive B-Cell Acute Lymphoblastic Leukemia in Adult Patients: A Single-Institution Experience.

Konoplev S et al.

American Journal of Clinical Pathology, 2017

Prognostic and therapeutic role of targetable lesions in B-lineage acute lymphoblastic leukemia without recurrent fusion genes.

Messina M et al.

Oncotarget, 2016

Effects of the I682F mutation on JAK2's activity, structure and stability.

Li F et al.

International Journal of Biological Macromolecules, 2015

The molecular regulation of Janus kinase (JAK) activation.

Babon JJ et al.

The Biochemical Journal, 2014

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

Shan Y et al.

Nature Structural & Molecular Biology, 2014

Mechanistic insights into activation and SOCS3-mediated inhibition of myeloproliferative neoplasm-associated JAK2 mutants from biochemical and structural analyses.

Varghese LN et al.

The Biochemical Journal, 2014

Lymphoid malignancies: Another face to the Janus kinases.

Scott LM

Blood Reviews, 2013

Rearrangement of CRLF2 is associated with mutation of JAK kinases, alteration of IKZF1, Hispanic/Latino ethnicity, and a poor outcome in pediatric B-progenitor acute lymphoblastic leukemia.

Harvey RC et al.

Blood, 2010

Deregulated expression of cytokine receptor gene, CRLF2, is involved in lymphoid transformation in B-cell precursor acute lymphoblastic leukemia.

Russell LJ et al.

Blood, 2009

JAK mutations in high-risk childhood acute lymphoblastic leukemia.

Mullighan CG et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

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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."