Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.V678L
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JAK3

NM_000215.4:p.V678L

Associated Papers

Molecular pathology and computational profiling of Janus kinase 2 (JAK2) mutation in acute lymphoblastic leukemia: insights from a Pakistani cohort.

Maqsood S et al.

Laboratory Medicine, 2025

Clinical and genetic profile of Chinese patients with indolent natural killer-cell lymphoproliferative disorder of the gastrointestinal tract.

Chen H et al.

Neoplasia (new York, N.y.), 2024

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

Wahnschaffe L et al.

Cancers, 2019

31766351 (PubMed )
Supplement: cancers-11-01833-s001.zip › Supplementary_Table_3.xlsx › Tabelle1

Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome.

Labuhn M et al.

Cancer Cell, 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

JAK-STAT and G-protein-coupled receptor signaling pathways are frequently altered in epitheliotropic intestinal T-cell lymphoma.

Nairismägi ML et al.

Leukemia, 2016

26854024 (PubMed )
Supplement: leu201613x3.xls › ST8

Genes encoding members of the JAK-STAT pathway or epigenetic regulators are recurrently mutated in T-cell prolymphocytic leukaemia.

López C et al.

British Journal of Haematology, 2016

The mutational landscape of cutaneous T cell lymphoma and Sézary syndrome.

da Silva Almeida AC et al.

Nature Genetics, 2015

Targeted sequencing identifies associations between IL7R-JAK mutations and epigenetic modulators in T-cell acute lymphoblastic leukemia.

Vicente C et al.

Haematologica, 2015

Identification of a homozygous JAK3 V674A mutation caused by acquired uniparental disomy in a relapsed early T-cell precursor ALL patient.

Kawashima-Goto S et al.

International Journal of Hematology, 2015

Recurrent mutation of JAK3 in T-cell prolymphocytic leukemia.

Bergmann AK et al.

Genes, Chromosomes & Cancer, 2014

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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."