Varaico: Literature-Extracted Genetic Variants

Gene:IKZF3
Variant:p.L162R
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IKZF3

NM_012481.5:p.L162R

Associated Papers

H195Y mutation of IKZF3 identified in a mouse model of precursor B cell acute lymphoblastic leukemia impairs transcriptional repression activity and increases protein stability.

Rysan H et al.

Journal of Leukocyte Biology, 2026

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S3

AIOLOS-Associated Inborn Errors of Immunity.

Yamashita M et al.

Journal of Clinical Immunology, 2024

IKZF3/Aiolos H195Y mutation identified in a mouse model of B cell leukemia results in altered DNA binding and altered STAT5-dependent gene expression.

Rodrigues de Oliveira B et al.

Gene, 2024

IKZF3 polymorphisms contribute to the increased risk of acute lymphoblastic leukemia in children.

Yang X et al.

Cancer, 2024

Pirtobrutinib targets BTK C481S in ibrutinib-resistant CLL but second-site BTK mutations lead to resistance.

Naeem A et al.

Blood Advances, 2023

36287227 (PubMed )
Supplement: BLOODA_ADV-2022-008447-mmc1.xlsx › Table_S4

Mitochondrial DNA Mutations as Natural Barcodes for Lineage Tracing of Murine Tumor Models.

Penter L et al.

Cancer Research, 2023

Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Crouch S et al.

Blood Advances, 2022

35363872 (PubMed )
Supplement: BLOODA_ADV-2021-005284-mmc1.xlsx › S2_DLBCL_SNV

Whole-exome sequencing analysis identifies distinct mutational profile and novel prognostic biomarkers in primary gastrointestinal diffuse large B-cell lymphoma.

Li SS et al.

Experimental Hematology & Oncology, 2022

36243813 (PubMed )
Supplement: 40164_2022_325_MOESM2_ESM.xlsx › Sheet1

AIOLOS Variants Causing Immunodeficiency in Human and Mice.

Yamashita M et al.

Frontiers in Immunology, 2022

IGH Translocations in Chinese Patients With Chronic Lymphocytic Leukemia: Clinicopathologic Characteristics and Genetic Profile.

Li Q et al.

Frontiers in Oncology, 2022

35720006 (PubMed )
Supplement: Table_2.xlsx › Sheet1

Plasma Concentrations and Cancer-Associated Mutations in Cell-Free Circulating DNA of Treatment-Naive Follicular Lymphoma for Improved Non-Invasive Diagnosis and Prognosis.

Hatipoğlu T et al.

Frontiers in Oncology, 2022

35795062 (PubMed )
Supplement: DataSheet_2.xlsx › FL_Cases_Variant_List__Table_S4

T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.

Kuehn HS et al.

The Journal of Experimental Medicine, 2021

Cytogenetic and molecular abnormalities in Waldenström's macroglobulinemia patients: Correlations and prognostic impact.

Krzisch D et al.

American Journal of Hematology, 2021

Altered DNA Methylation Profiles in SF3B1 Mutated CLL Patients.

Pacholewska A et al.

International Journal of Molecular Sciences, 2021

A hotspot mutation in transcription factor IKZF3 drives B cell neoplasia via transcriptional dysregulation.

Lazarian G et al.

Cancer Cell, 2021

Proposal and validation of a method to classify genetic subtypes of diffuse large B cell lymphoma.

Pedrosa L et al.

Scientific Reports, 2021

33479306 (PubMed )
Supplement: 41598_2020_80376_MOESM1_ESM.xlsx › Table_S2._Mutational_data

Mutational Profile and Clonal Evolution of Relapsed/Refractory Diffuse Large B-Cell Lymphoma.

Lee B et al.

Frontiers in Oncology, 2021

33777778 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_Data_Set_1

Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.

Yasuda T et al.

Cancer Science, 2020

32619037 (PubMed )
Supplement: CAS-111-3367-s004.xlsx › Sup.Table4

Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups.

Egan C et al.

Haematologica, 2020

Identification of cancer driver genes based on nucleotide context.

Dietlein F et al.

Nature Genetics, 2020

32015527 (PubMed )
Supplement: NIHMS1546846-supplement-2.xlsx › Supplementary_Table_5

High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Pillonel V et al.

Leukemia, 2018

29556019 (PubMed )
Supplement: 41375_2018_82_MOESM10_ESM.xlsx › .

Clinical implications of cancer gene mutations in patients with chronic lymphocytic leukemia treated with lenalidomide.

Takahashi K et al.

Blood, 2018

Differences between BCL2-break positive and negative follicular lymphoma unraveled by whole-exome sequencing.

Zamò A et al.

Leukemia, 2018

28824170 (PubMed )
Supplement: 41375_2018_BFleu2017270_MOESM101_ESM.xlsx › S_Table_3b

The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy.

Landau DA et al.

Nature Communications, 2017

29259203 (PubMed )
Supplement: 41467_2017_2329_MOESM4_ESM.xlsx › Supplementary_Data_2

Mutations driving CLL and their evolution in progression and relapse.

Landau DA et al.

Nature, 2015

Acquired initiating mutations in early hematopoietic cells of CLL patients.

Damm F et al.

Cancer Discovery, 2014

24920063 (PubMed )
Supplement: 21598290cd140104-sup-tab1.xls › CLL16

Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.

Morin RD et al.

Nature, 2011

21796119 (PubMed )
Supplement: NIHMS313098-supplement-10.xls › cell_line_mutations.txt
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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."