Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.V722I
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JAK3

NM_000215.4:p.V722I

Associated Papers

Application of Targeted RNA-Sequencing in High-Risk B-Cell Acute Lymphoblastic Leukemia (B-ALL): Identifying Fusions, IKZF1 Deletions, and CRLF2 Expression in an Indian Cohort.

Gupta SK et al.

International Journal of Laboratory Hematology, 2026

Impact of rare JAK/STAT germline mutations on vaccination-induced innate immune responses in a Tyrolian population.

Hennighausen L et al.

International Journal of Biological Sciences, 2026

Complex genetic landscape in CLL: Clinical impact on patients' survival and insights into the altered molecular pathways.

Caputo C et al.

Molecular Therapy. Oncology, 2025

Investigation of the transcriptional impact of rare germline JAK/STAT variants found in a Tyrolean alpine community.

Hennighausen L et al.

Bmc Genomics, 2025

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Common origin and somatic mutation patterns of composite lymphomas and leukemias.

Berg V et al.

Leukemia, 2025

Germline variants in CDKN2A wild-type melanoma prone families.

Iversen GT et al.

Molecular Oncology, 2025

JAK3 A573V and JAK3 M511I mutations in peripheral T-cell lymphoma mediating resistance to anti-PD-1 therapy through the STAT3/PD-L1 pathway.

Lou N et al.

Journal for Immunotherapy of Cancer, 2025

Mutational profiling using liquid biopsy to guide targeted therapy in patients with metastatic cancer.

Mazouji O et al.

Scientific Reports, 2025

40169620 (PubMed )
Supplement: 41598_2025_88094_MOESM1_ESM.xlsx › Feuil1

How to combine multiple tools for the genetic diagnosis work-up of pediatric B-cell acute lymphoblastic leukemia.

Hidalgo-Gómez G et al.

Annals of Hematology, 2025

39843811 (PubMed )
Supplement: 277_2024_6151_MOESM1_ESM.xlsx › S1._Genetics_data

Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.

Hoffmann M et al.

Scientific Reports, 2025

MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.

Friker LL et al.

Acta Neuropathologica, 2025

39894875 (PubMed )
Supplement: 401_2025_2846_MOESM1_ESM.xlsx › Sheet1

Expressed mutated genes in Sezary syndrome and their potential prognostic value in patients treated with extracorporeal photopheresis.

Cristofoletti C et al.

Frontiers in Immunology, 2025

Targeted mutational profiling of Epstein Barr virus-positive mucocutaneous ulcer: Implications for differential diagnosis with EBV-positive diffuse large B-cell lymphoma.

Volaric AK et al.

Annals of Diagnostic Pathology, 2024

A high proportion of germline variants in pediatric chronic myeloid leukemia.

Krumbholz M et al.

Molecular Cancer, 2024

39327604 (PubMed )
Supplement: 12943_2024_2109_MOESM2_ESM.xlsx › Suppl_Table_6

A clinically compatible in vitro drug-screening platform identifies therapeutic vulnerabilities in primary cultures of brain metastases.

Jeising S et al.

Journal of Neuro-oncology, 2024

Next-generation sequencing as a valuable tool for mutational spectrum in advanced-stage NSCLC patients.

Iurca I et al.

Medicine and Pharmacy Reports, 2024

Mutation Patterns Predict Drug Sensitivity in Acute Myeloid Leukemia.

Qin G et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38619278 (PubMed )
Supplement: ccr-23-1674_supplementary_table_s1-s14_suppts1.xlsx › TableS2_Var_AF0.01

Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3.

Tsilifis C et al.

Journal of Clinical Immunology, 2024

38598033 (PubMed )
Supplement: 10875_2024_1699_MOESM1_ESM.pdf

Idiopathic erythrocytosis: a germline disease?

Elli EM et al.

Clinical and Experimental Medicine, 2024

Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas.

Bedics G et al.

Scientific Reports, 2023

37891325 (PubMed )
Supplement: 41598_2023_45786_MOESM2_ESM.xlsx › Table_S2

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

Structural basis of Janus kinase trans-activation.

Caveney NA et al.

Cell Reports, 2023

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.

Magallón-Lorenz M et al.

Iscience, 2023

36818284 (PubMed )
Supplement: mmc2.xlsx › STS-26T

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 › 2_Patient_12__first_transplant_

Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study.

Reis BCSD et al.

Frontiers in Cellular and Infection Microbiology, 2023

JAK: Not Just Another Kinase.

Agashe RP et al.

Molecular Cancer Therapeutics, 2022

A novel start-loss mutation of the SH2B3 gene in a family with myeloproliferative neoplasms.

Beghini A et al.

Hematological Oncology, 2022

A study on the placenta in stillbirth: an evaluation of molecular alterations through next generation sequencing.

Nardi E et al.

Placenta, 2022

Combined Focused Next-Generation Sequencing Assays to Guide Precision Oncology in Solid Tumors: A Retrospective Analysis from an Institutional Molecular Tumor Board.

Tarawneh TS et al.

Cancers, 2022

36139590 (PubMed )
Supplement: cancers-14-04430-s001.zip › Tarawneh_et_al_Supplementary_Table_S5.xlsx › Alterations

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

El Hawary RE et al.

Journal of Clinical Immunology, 2022

Investigation of Molecular Features Involved in Clinical Responses and Survival in Advanced Endometrial Carcinoma Treated by Hormone Therapy.

Neron M et al.

Journal of Personalized Medicine, 2022

35629078 (PubMed )
Supplement: jpm-12-00655-s001.zip › Supplementary_tables__MC20220419.xlsx › Table_S4

Next-Generation Sequencing in Lung Cancer Patients: A Comparative Approach in NSCLC and SCLC Mutational Landscapes.

Pop-Bica C et al.

Journal of Personalized Medicine, 2022

35330454 (PubMed )
Supplement: jpm-12-00453-s001.zip › jpm-1596007-supplementary.xlsx › Blood

Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Teerlink CC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022

34151536 (PubMed )
Supplement: ALZ-18-307-s002.xlsx › Predicted_Deleterious_Filter

T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects.

Fang M et al.

Journal of Clinical Immunology, 2022

Circulating Cell-Free DNA-Based Comprehensive Molecular Analysis of Biliary Tract Cancers Using Next-Generation Sequencing.

Csoma SL et al.

Cancers, 2022

The Molecular Subtype of Adult Acute Lymphoblastic Leukemia Samples Determines the Engraftment Site and Proliferation Kinetics in Patient-Derived Xenograft Models.

Richter A et al.

Cells, 2022

Acute Mast Cell Leukemia Preceded by Malignant Mediastinal Germ Cell Tumor: A Case Report and Literature Review.

Wang H et al.

Cancer Management and Research, 2022

Recommendations for Specimen and Therapy Selection in Colorectal Cancer.

Patel SB et al.

Oncology and Therapy, 2021

33895946 (PubMed )
Supplement: 40487_2021_151_MOESM1_ESM.pdf

Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.

Brancaccio M et al.

Diagnostics (basel, Switzerland), 2021

34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3

Aberrant Signaling Pathways in Sinonasal Intestinal-Type Adenocarcinoma.

Riobello C et al.

Cancers, 2021

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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."