Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.R183C
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IKZF1

NM_006060.6:p.R183C

Associated Papers

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

Stoddard J et al.

Jci Insight, 2025

Inborn errors of regulatory T-cell differentiation and function.

Oktelik FB et al.

The Journal of Allergy and Clinical Immunology, 2025

Overt and covert genetic causes of pediatric acute lymphoblastic leukemia.

Stoltze U et al.

Leukemia, 2025

IKZF1 and UBR4 gene variants drive autoimmunity and Th2 polarization in IgG4-related disease.

Liu Q et al.

The Journal of Clinical Investigation, 2024

IKAROS gain of function disease: Allogeneic hematopoietic cell transplantation experience and expanded clinical phenotypes.

Klangkalya N et al.

Clinical Immunology (orlando, Fla.), 2024

Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency.

Kuehn HS et al.

Clinical and Experimental Immunology, 2023

Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation.

Hoshino A et al.

Science Immunology, 2022

IKZF1/3 and CRL4CRBN E3 ubiquitin ligase mutations and resistance to immunomodulatory drugs in multiple myeloma.

Barrio S et al.

Haematologica, 2020

Mutations of CREBBP and SOCS1 are independent prognostic factors in diffuse large B cell lymphoma: mutational analysis of the SAKK 38/07 prospective clinical trial cohort.

Juskevicius D et al.

Journal of Hematology & Oncology, 2017

28302137 (PubMed )
Supplement: 13045_2017_438_MOESM1_ESM.xlsx › Selected_mutations_2016.08.22
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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."