Varaico: Literature-Extracted Genetic Variants

Gene:RAC2
Variant:p.Q61R
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RAC2

NM_002872.5:p.Q61R

Associated Papers

[RAC2 gain-of-function mutations causing immunodeficiency drive activation of the NLRP3 inflammasome].

Doye A et al.

Medecine Sciences : M/s, 2025

RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation.

Doye A et al.

The Journal of Experimental Medicine, 2024

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

Ashby L et al.

Clinical & Translational Immunology, 2024

Case Report: Profound newborn leukopenia related to a novel RAC2 variant.

Hall G et al.

Frontiers in Pediatrics, 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

A Novel RAC2 Variant Presenting as Severe Combined Immunodeficiency.

Stern H et al.

Journal of Clinical Immunology, 2021

Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network.

Caye A et al.

Nature Genetics, 2015

Detection of KRAS and BRAF mutations in colorectal carcinoma roles for high-sensitivity locked nucleic acid-PCR sequencing and broad-spectrum mass spectrometry genotyping.

Arcila M et al.

The Journal of Molecular Diagnostics : Jmd, 2011

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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."