Varaico: Literature-Extracted Genetic Variants

Gene:JAK1
Variant:p.P733P
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JAK1

NM_002227.4:p.P733P

Associated Papers

BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.

Golan H et al.

Bmc Cancer, 2025

41174508 (PubMed )
Supplement: 12885_2025_14595_MOESM2_ESM.xls › high-confidence_variants__2_

Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.

Aertgeerts M et al.

Hemasphere, 2025

39944233 (PubMed )
Supplement: HEM3-9-e70085-s003.xlsx › XI150

Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.

Kerle IA et al.

Npj Precision Oncology, 2025

39794422 (PubMed )
Supplement: 41698_2024_788_MOESM7_ESM.xlsx › patient_10_panel_small_variants

Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.

Linder A et al.

Human Reproduction (oxford, England), 2024

38459814 (PubMed )
Supplement: deae043_supplementary_table_s3.xlsx › Endometriosis

Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition.

Huang YT et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2024

38424547 (PubMed )
Supplement: 13046_2024_2987_MOESM2_ESM.xlsx › Table_S1

Hereditary predisposition to malignant myeloid hemopathies: Caution in use of saliva and guideline based on our experience.

Perani A et al.

Frontiers in Oncology, 2023

36923434 (PubMed )
Supplement: DataSheet_1.zip › Data_Sheet_1 › Table_S3.xlsx › 1_Patient_4

Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.

Nassar A et al.

Current Issues in Molecular Biology, 2022

36547062 (PubMed )
Supplement: cimb-44-00401-s001.zip › supplementary_2.xlsx › CCP_ALL_source

Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.

Meyers S et al.

Hemasphere, 2022

35291210 (PubMed )
Supplement: hs9-6-e700-s004.xlsx › XF104

PD-L1 targeting and subclonal immune escape mediated by PD-L1 mutations in metastatic colorectal cancer.

Stein A et al.

Journal for Immunotherapy of Cancer, 2021

34315821 (PubMed )
Supplement: jitc-2021-002844supp002.xlsx › Supplementary_Table_S3

First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Fu W et al.

Bmc Medical Genomics, 2021

34001105 (PubMed )
Supplement: 12920_2021_979_MOESM2_ESM.xlsx › data

Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Suarez-Kelly LP et al.

Cold Spring Harbor Molecular Case Studies, 2018

29449315 (PubMed )
Supplement: supp_mcs.a002352_Supplemental_Table_3.xls › SuppTable3.modified.20171216

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs.

Stoddard JL et al.

Frontiers in Immunology, 2014

25404929 (PubMed )
Supplement: Data_Sheet_1.XLSX › Table_S4

JAK1 mutation analysis in T-cell acute lymphoblastic leukemia cell lines.

Porcu M et al.

Haematologica, 2009

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.

Flex E et al.

The Journal of Experimental Medicine, 2008

18362173 (PubMed )
Supplement: jexpmed_jem.20072182_5.pdf
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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."