Varaico: Literature-Extracted Genetic Variants

Gene:RAC2
Variant:p.G12V
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RAC2

NM_002872.5:p.G12V

Associated Papers

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

Doye A et al.

The Journal of Experimental Medicine, 2024

Hyperactive Rac stimulates cannibalism of living target cells and enhances CAR-M-mediated cancer cell killing.

Mishra AK et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

38109551 (PubMed )
Supplement: pnas.2310221120.sapp.pdf

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

Zhang L et al.

Journal of Clinical Immunology, 2022

A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency.

Lagresle-Peyrou C et al.

Haematologica, 2021

The molecular basis for immune dysregulation by the hyperactivated E62K mutant of the GTPase RAC2.

Arrington ME et al.

The Journal of Biological Chemistry, 2020

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

Lougaris V et al.

The Journal of Allergy and Clinical Immunology, 2019

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

Caye A et al.

Nature Genetics, 2015

KRAS codon 12 and 13 mutations in relation to disease-free survival in BRAF-wild-type stage III colon cancers from an adjuvant chemotherapy trial (N0147 alliance).

Yoon HH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2014

The proto-oncogene KRAS and BRAF profiles and some clinical characteristics in colorectal cancer in the Turkish population.

Ozen F et al.

Genetic Testing and Molecular Biomarkers, 2013

Detecting KRAS mutations in peripheral blood of colorectal cancer patients by peptide nucleic acid clamp PCR.

Miyano S et al.

Experimental and Therapeutic Medicine, 2012

Impact of the specific mutation in KRAS codon 12 mutated tumors on treatment efficacy in patients with metastatic colorectal cancer receiving cetuximab-based first-line therapy: a pooled analysis of three trials.

Modest DP et al.

Oncology, 2012

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

KRAS mutations in Slovene patients with colorectal cancer: frequency, distribution and correlation with the response to treatment.

Licar A et al.

International Journal of Oncology, 2010

Frequency and type of KRAS mutations in routine diagnostic analysis of metastatic colorectal cancer.

Neumann J et al.

Pathology, Research and Practice, 2009

K-ras mutations and benefit from cetuximab in advanced colorectal cancer.

Karapetis CS et al.

The New England Journal of Medicine, 2008

Fluoride complexes of oncogenic Ras mutants to study the Ras-RasGap interaction.

Gremer L et al.

Biological Chemistry, 2008

Ras superfamily monomeric G proteins in carcinoma cell motility.

Oxford G et al.

Cancer Letters, 2003

RGS14 is a novel Rap effector that preferentially regulates the GTPase activity of galphao.

Traver S et al.

The Biochemical Journal, 2000

Mutant Rac1B expression in Dictyostelium: effects on morphology, growth, endocytosis, development, and the actin cytoskeleton.

Palmieri SJ et al.

Cell Motility and the Cytoskeleton, 2000

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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."