Varaico: Literature-Extracted Genetic Variants

Gene:JAK1
Variant:p.S646F
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JAK1

NM_002227.4:p.S646F

Associated Papers

Genomics of T-Cell Lymphomas With CD30/CD15 Co-Expression: Comparison With Anaplastic Large-Cell Lymphoma, ALK-Negative.

de Castro JVA et al.

The American Journal of Surgical Pathology, 2025

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

Genetic evolution and relapse-associated mutations in adult T-cell acute lymphoblastic leukemia patients treated in PETHEMA trials.

González-Gil C et al.

Hemasphere, 2025

40420999 (PubMed )
Supplement: HEM3-9-e70148-s007.xlsx › SNV

Targeted Deep Sequencing of Mycosis Fungoides Reveals Intracellular Signaling Pathways Associated with Aggressiveness and Large Cell Transformation.

Wobser M et al.

Cancers, 2021

Deregulation of the Interleukin-7 Signaling Pathway in Lymphoid Malignancies.

Lodewijckx I et al.

Pharmaceuticals (basel, Switzerland), 2021

Effect of non-synonymous SNP on JAK1 protein structure and subsequent function.

Liza R et al.

Bioinformation, 2019

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 3

From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards.

Perera-Bel J et al.

Genome Medicine, 2018

29544535 (PubMed )
Supplement: 13073_2018_529_MOESM5_ESM.pdf

[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

Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes.

Lindqvist CM et al.

Oncotarget, 2016

27590521 (PubMed )
Supplement: oncotarget-07-64071-s002.xlsx › Table_S4_diagnostic_mutations

An ENU mutagenesis-derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune disease.

Sabrautzki S et al.

The American Journal of Pathology, 2013

Lymphoid malignancies: Another face to the Janus kinases.

Scott LM

Blood Reviews, 2013

Oncogenic JAK1 and JAK2-activating mutations resistant to ATP-competitive inhibitors.

Hornakova T et al.

Haematologica, 2011

Transforming JAK1 mutations exhibit differential signalling, FERM domain requirements and growth responses to interferon-γ.

Gordon GM et al.

The Biochemical Journal, 2010

CRLF2 and JAK2 in B-progenitor acute lymphoblastic leukemia: a novel association in oncogenesis.

Roll JD et al.

Cancer Research, 2010

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."