Varaico: Literature-Extracted Genetic Variants

Gene:RAC2
Variant:p.W56*
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RAC2

NM_002872.5:p.W56*

Associated Papers

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

Shajari A et al.

International Urology and Nephrology, 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

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

Progressive multifocal leukoencephalopathy in a patient with novel mutation in the RAC2 gene: a case report.

Bahrami S et al.

Journal of Medical Case Reports, 2022

RHO GTPases: from new partners to complex immune syndromes.

El Masri R et al.

Nature Reviews. Immunology, 2021

RAC2 and primary human immune deficiencies.

Lougaris V et al.

Journal of Leukocyte Biology, 2020

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects.

Hsu AP et al.

Blood, 2019

A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency.

Lougaris V et al.

The Journal of Allergy and Clinical Immunology, 2019

Human inborn errors of the actin cytoskeleton affecting immunity: way beyond WAS and WIP.

Tangye SG et al.

Immunology and Cell Biology, 2019

Primary immunodeficiencies caused by mutations in actin regulatory proteins.

Janssen E et al.

Immunological Reviews, 2019

RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency.

Alkhairy OK et al.

The Journal of Allergy and Clinical Immunology, 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."