Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.R683T
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JAK2

NM_004972.4:p.R683T

Associated Papers

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial.

Schwab C et al.

Leukemia, 2023

36550215 (PubMed )
Supplement: 41375_2022_1799_MOESM1_ESM.pdf

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

Genetic and genomic analysis of acute lymphoblastic leukemia in older adults reveals a distinct profile of abnormalities: analysis of 210 patients from the UKALL14 and UKALL60+ clinical trials.

Creasey T et al.

Haematologica, 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

IKZF1 deletions associate with CRLF2 overexpression leading to a poor prognosis in B-cell precursor acute lymphoblastic leukaemia.

Maciel ALT et al.

Translational Oncology, 2022

JAK2 aberrations in childhood B-cell precursor acute lymphoblastic leukemia.

Steeghs EMP et al.

Oncotarget, 2017

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

Vesely C et al.

Leukemia, 2017

27899802 (PubMed )
Supplement: leu2016365x1.docx

Targeting substrate-site in Jak2 kinase prevents emergence of genetic resistance.

Kesarwani M et al.

Scientific Reports, 2015

Lymphoid malignancies: Another face to the Janus kinases.

Scott LM

Blood Reviews, 2013

Tyrosine kinome sequencing of pediatric acute lymphoblastic leukemia: a report from the Children's Oncology Group TARGET Project.

Loh ML et al.

Blood, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Functional screening identifies CRLF2 in precursor B-cell acute lymphoblastic leukemia.

Yoda A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia.

Gaikwad A et al.

British Journal of Haematology, 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."