Varaico: Literature-Extracted Genetic Variants

Gene:JAK1
Variant:p.R879C
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JAK1

NM_002227.4:p.R879C

Associated Papers

Divergent molecular pathways drive monomorphic epitheliotropic and enteropathy-associated intestinal T-cell lymphoma.

Vallois D et al.

Leukemia, 2026

41057685 (PubMed )
Supplement: 41375_2025_2777_MOESM1_ESM.pdf

Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.

Li Y et al.

British Journal of Haematology, 2025

40958529 (PubMed )
Supplement: supplement_1.zip › Table_S3.xlsx › Sheet1

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_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

Base editing screens map mutations affecting interferon-γ signaling in cancer.

Coelho MA et al.

Cancer Cell, 2023

36669486 (PubMed )
Supplement: mmc4.xlsx › BE_variants_-clinical_relevance

Monomorphic epitheliotropic intestinal T-cell lymphoma comprises morphologic and genomic heterogeneity impacting outcome.

Veloza L et al.

Haematologica, 2023

35708139 (PubMed )
Supplement: 2022_281226_VELOZA_SUPPL.pdf

Identification of a novel functional JAK1 S646P mutation in acute lymphoblastic leukemia.

Li Q et al.

Oncotarget, 2017

Genomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals novel recurrent driver mutations.

Spinella JF et al.

Oncotarget, 2016

27602765 (PubMed )
Supplement: oncotarget-07-65485-s004.xlsx › Sheet1

Hyperactivation of JAK1 tyrosine kinase induces stepwise, progressive pruritic dermatitis.

Yasuda T et al.

The Journal of Clinical Investigation, 2016

Genomic characterization of acute leukemias.

Chiaretti S et al.

Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre, 2014

JAK1 truncating mutations in gynecologic cancer define new role of cancer-associated protein tyrosine kinase aberrations.

Ren Y et al.

Scientific Reports, 2013

24154688 (PubMed )
Supplement: srep03042-s1.pdf

ALL-associated JAK1 mutations confer hypersensitivity to the antiproliferative effect of type I interferon.

Hornakova T et al.

Blood, 2010

Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers.

Hornakova T et al.

The Journal of Biological Chemistry, 2009

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.

Flex E et al.

The Journal of Experimental Medicine, 2008

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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."