Varaico: Literature-Extracted Genetic Variants

Gene:RAC2
Variant:p.N92T
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RAC2

NM_002872.5:p.N92T

Associated Papers

Case Report: Characterization of a RAC2 R68W homozygous activating mutation causing combined immune deficiency.

Desjardins A et al.

Frontiers in Immunology, 2026

Inborn errors of immunity with kidney and urinary tract disorders: a review.

Shajari A et al.

International Urology and Nephrology, 2024

Phenotypic spectrum in a family with a novel RAC2 p.I21S dominant-activating mutation.

Ashby L et al.

Clinical & Translational Immunology, 2024

Not too little, not too much: the impact of mutation types in Wiskott-Aldrich syndrome and RAC2 patients.

Hsu AP

Clinical and Experimental Immunology, 2023

Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E.

Duan X et al.

Journal of Clinical Immunology, 2023

A Novel RAC2 Mutation Causing Combined Immunodeficiency.

Zhang L et al.

Journal of Clinical Immunology, 2023

Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation.

Zhang L et al.

Journal of Clinical Immunology, 2022

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S13.xls › human_pat_mouse_phe_orthovar_14

RHO GTPases: from new partners to complex immune syndromes.

El Masri R et al.

Nature Reviews. Immunology, 2021

A Novel RAC2 Variant Presenting as Severe Combined Immunodeficiency.

Stern H et al.

Journal of Clinical Immunology, 2021

RAC2 and primary human immune deficiencies.

Lougaris V et al.

Journal of Leukocyte Biology, 2020

RAC1 as a Therapeutic Target in Malignant Melanoma.

Cannon AC et al.

Trends in Cancer, 2020

Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections.

Sharapova SO et al.

Clinical Immunology (orlando, Fla.), 2019

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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."