Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.D873N
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JAK2

NM_004972.4:p.D873N

Associated Papers

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

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.9

Sequential immunotherapy and targeted therapy for metastatic BRAF V600 mutated melanoma: 4-year survival and biomarkers evaluation from the phase II SECOMBIT trial.

Ascierto PA et al.

Nature Communications, 2024

38167503 (PubMed )
Supplement: 41467_2023_44475_MOESM1_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

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

JAK2S523L, a novel gain-of-function mutation in a critical autoregulatory residue in JAK2V617F- MPNs.

Pastore F et al.

Blood Advances, 2020

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

[Detection of activating mutations in RAS/RAF/MEK/ERK and JAK/STAT signaling pathways].

Zarubina KI et al.

Terapevticheskii Arkhiv, 2020

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

Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.

Ma X et al.

Nature, 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

Mechanistic Insights into Regulation of JAK2 Tyrosine Kinase.

Hubbard SR

Frontiers in Endocrinology, 2017

Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Pentsova EI et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2016

27161972 (PubMed )
Supplement: supp_JCO.2016.66.6487_DS_2016.666487.xlsx › SNV__Indels

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

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."