Varaico: Literature-Extracted Genetic Variants

Gene:CSF2RB
Variant:p.R461C
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CSF2RB

NM_000395.3:p.R461C

Associated Papers

Charge-based immunoreceptor signalling in health and disease.

Shi X et al.

Nature Reviews. Immunology, 2025

A STUB1 ubiquitin ligase/CHIC2 protein complex negatively regulates the IL-3, IL-5, and GM-CSF cytokine receptor common β chain (CSF2RB) protein stability.

Koochaki SHJ et al.

The Journal of Biological Chemistry, 2022

Discovery of a novel potentially transforming somatic mutation in CSF2RB gene in breast cancer.

Rashid M et al.

Cancer Medicine, 2021

Genetic variants of small airways and interstitial pulmonary disease in children.

Alsamri MT et al.

Scientific Reports, 2021

Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome.

Labuhn M et al.

Cancer Cell, 2019

Analysis of acquired mutations in transgenes arising in Ba/F3 transformation assays: findings and recommendations.

Watanabe-Smith K et al.

Oncotarget, 2017

Discovery and functional characterization of a germline, CSF2RB-activating mutation in leukemia.

Watanabe-Smith K et al.

Leukemia, 2016

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1535.548
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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."