Varaico: Literature-Extracted Genetic Variants

Gene:JAK1
Variant:p.R879H
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JAK1

NM_002227.4:p.R879H

Associated Papers

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

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Homan CC et al.

Blood Advances, 2023

37406166 (PubMed )
Supplement: BLOODA_ADV-2023-010045-mmc4.xlsx › Supp_Table_3__final

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

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1

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

Spatially resolved analyses link genomic and immune diversity and reveal unfavorable neutrophil activation in melanoma.

Mitra A et al.

Nature Communications, 2020

Acquired TET2 mutation in one patient with familial platelet disorder with predisposition to AML led to the development of pre-leukaemic clone resulting in T2-ALL and AML-M0.

Manchev VT et al.

Journal of Cellular and Molecular Medicine, 2017

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

Yasuda T et al.

The Journal of Clinical Investigation, 2016

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."