Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.R213*
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IKZF1

NM_006060.6:p.R213*

Associated Papers

Strategies for identifying NUP98 rearrangements in adult myeloid neoplasms.

Yuen LD et al.

Haematologica, 2026

40820841 (PubMed )
Supplement: 2025_288080_YUEN_TABLES_SUPPL.xlsx › Suppl_table_2_all_mutations

IKAROS regulates human T cell phenotype at a thymic and postthymic level.

Stoddard J et al.

Jci Insight, 2025

Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.

Ikoma Y et al.

Leukemia, 2025

40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5

Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.

Kuehn HS et al.

The Journal of Clinical Investigation, 2024

"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.

Hadad S et al.

Acta Neuropathologica, 2023

38079020 (PubMed )
Supplement: 401_2023_2654_MOESM2_ESM.xlsx › Table_S3

Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family.

Kuijpers TW et al.

Frontiers in Immunology, 2022

Inborn errors of IKAROS and AIOLOS.

Yamashita M et al.

Current Opinion in Immunology, 2021

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.

Kuehn HS et al.

Blood, 2021

Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.

Hoshino A et al.

Frontiers in Immunology, 2021

35087518 (PubMed )
Supplement: DataSheet_1.docx

The specific distribution pattern of IKZF1 mutation in acute myeloid leukemia.

Zhang X et al.

Journal of Hematology & Oncology, 2020

B-lymphocyte deficiency and recurrent respiratory infections in a 6-month-old female infant with mosaic monosomy 7.

Mai K et al.

Immunobiology, 2020

Somatic variants in epigenetic modifiers can predict failure of response to imatinib but not to second-generation tyrosine kinase inhibitors.

Nteliopoulos G et al.

Haematologica, 2019

Comprehensive genomic profiling of 295 cases of clinically advanced urothelial carcinoma of the urinary bladder reveals a high frequency of clinically relevant genomic alterations.

Ross JS et al.

Cancer, 2016

EVI1-rearranged acute myeloid leukemias are characterized by distinct molecular alterations.

Lavallée VP et al.

Blood, 2015

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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."