Varaico: Literature-Extracted Genetic Variants

Gene:IKZF3
Variant:p.N160S
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IKZF3

NM_012481.5:p.N160S

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

Aiolos promotes CXCR3 expression on Th1 cells via positive regulation of IFN-γ/STAT1 signaling.

Leonard MR et al.

Jci Insight, 2024

AIOLOS-Associated Inborn Errors of Immunity.

Yamashita M et al.

Journal of Clinical Immunology, 2024

Identification and Functional Analysis of a de novo IKZF3 Mutation in a Pediatric Patient with Combined Immunodeficiency.

Shi X et al.

Journal of Clinical Immunology, 2024

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

A Rare AIOLOS N160S Variant Causing IEI in Human.

Özdemir Ö et al.

Journal of Clinical Immunology, 2024

Impaired tissue homing by the Ikzf3N159S variant is mediated by interfering with Ikaros function.

Chang J et al.

Frontiers in Immunology, 2023

AIOLOS Variants Causing Immunodeficiency in Human and Mice.

Yamashita M et al.

Frontiers in Immunology, 2022

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

Inborn errors of IKAROS and AIOLOS.

Yamashita M et al.

Current Opinion in Immunology, 2021

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."