Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.L875H
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JAK3

NM_000215.4:p.L875H

Associated Papers

Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.

Lai A et al.

Neoplasia (new York, N.y.), 2025

41411742 (PubMed )
Supplement: mmc2.xlsx › Sheet1

The JAK3Q988P mutation reveals oncogenic potential and resistance to ruxolitinib.

Lahera A et al.

Molecular Carcinogenesis, 2024

Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.

Rensing-Ehl A et al.

The Journal of Allergy and Clinical Immunology, 2024

In vitro and in vivo modelling of mutant JAK3/STAT5 signaling in leukemia.

Omari SA et al.

Heliyon, 2023

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_12

Targeted sequencing to identify genetic alterations and prognostic markers in pediatric T-cell acute lymphoblastic leukemia.

Chang YH et al.

Scientific Reports, 2021

33436855 (PubMed )
Supplement: 41598_2020_80613_MOESM1_ESM.pdf

RNA sequencing as an alternative tool for detecting measurable residual disease in core-binding factor acute myeloid leukemia.

Kim T et al.

Scientific Reports, 2020

33208771 (PubMed )
Supplement: 41598_2020_76933_MOESM8_ESM.xlsx › TableS5

Failure of tofacitinib to achieve an objective response in a DDX3X-MLLT10 T-lymphoblastic leukemia with activating JAK3 mutations.

Wong J et al.

Cold Spring Harbor Molecular Case Studies, 2020

JAK/STAT Pathway Mutations in T-ALL, Including the STAT5B N642H Mutation, are Sensitive to JAK1/JAK3 Inhibitors.

Govaerts I et al.

Hemasphere, 2019

Mutant JAK3 signaling is increased by loss of wild-type JAK3 or by acquisition of secondary JAK3 mutations in T-ALL.

Degryse S et al.

Blood, 2018

The genomic landscape of pediatric myelodysplastic syndromes.

Schwartz JR et al.

Nature Communications, 2017

29146900 (PubMed )
Supplement: 41467_2017_1590_MOESM15_ESM.xlsx › Sup._T12_-_Validation_primers

Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia.

de Smith AJ et al.

Oncotarget, 2016

27683039 (PubMed )
Supplement: oncotarget-07-72733-s003.xlsx › Sheet1

Distinct Acute Lymphoblastic Leukemia (ALL)-associated Janus Kinase 3 (JAK3) Mutants Exhibit Different Cytokine-Receptor Requirements and JAK Inhibitor Specificities.

Losdyck E et al.

The Journal of Biological Chemistry, 2015

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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."