Varaico: Literature-Extracted Genetic Variants

Gene:RAC2
Variant:p.D63V
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RAC2

NM_002872.5:p.D63V

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

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

Hsu AP et al.

Blood, 2019

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

Caye A et al.

Nature Genetics, 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."