Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.R420P
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CBL

NM_005188.4:p.R420P

Associated Papers

Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.

Marshall CH et al.

Cancers, 2025

40361359 (PubMed )
Supplement: cancers-17-01432-s001.zip › cancers-3524691-supplementary.xlsx › Sheet1

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.

Bohlen J et al.

The Journal of Clinical Investigation, 2024

Ring Chromosomes in Hematological Malignancies Are Associated with TP53 Gene Mutations and Characteristic Copy Number Variants.

Boyd RJ et al.

Cancers, 2023

38001699 (PubMed )
Supplement: cancers-15-05439-s001.zip › cancers-2676276-supplementary.pdf

Structure and activation of the RING E3 ubiquitin ligase TRIM72 on the membrane.

Park SH et al.

Nature Structural & Molecular Biology, 2023

37770719 (PubMed )
Supplement: 41594_2023_1111_MOESM4_ESM.xlsx › Supplementary_Data_3

Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.

Cheng CK et al.

Communications Biology, 2023

37002311 (PubMed )
Supplement: 42003_2023_4732_MOESM5_ESM.xlsx › Supplementary_Data_2

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Kar SP et al.

Nature Genetics, 2022

35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST2

Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype.

Fardeau C et al.

International Journal of Molecular Sciences, 2022

The longitudinal dynamics and natural history of clonal haematopoiesis.

Fabre MA et al.

Nature, 2022

35650444 (PubMed )
Supplement: 41586_2022_4785_MOESM12_ESM.xlsx › MDS

Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia.

Hecht A et al.

Haematologica, 2022

Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.

Blombery P et al.

Haematologica, 2021

Characterizations of Gene Alterations in Melanoma Patients from Chinese Population.

Luo Y et al.

Biomed Research International, 2020

32083130 (PubMed )
Supplement: 6096814.f1.zip › 6096814.f1 › mat.6096814.v1.xlsx › Somatic_mutation

Age-related mutations and chronic myelomonocytic leukemia.

Mason CC et al.

Leukemia, 2016

26648538 (PubMed )
Supplement: 41375_2016_BFleu2015337_MOESM120_ESM.xlsx › ST7

Balancing Protein Stability and Activity in Cancer: A New Approach for Identifying Driver Mutations Affecting CBL Ubiquitin Ligase Activation.

Li M et al.

Cancer Research, 2016

Multiplex high-throughput gene mutation analysis in acute myeloid leukemia.

Dunlap J et al.

Human Pathology, 2012

Cbl and human myeloid neoplasms: the Cbl oncogene comes of age.

Kales SC et al.

Cancer Research, 2010

250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies.

Dunbar AJ et al.

Cancer Research, 2008

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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."