Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.C381R
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CBL

NM_005188.4:p.C381R

Associated Papers

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

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

Unidirectional association of clonal hematopoiesis with atherosclerosis development.

Díez-Díez M et al.

Nature Medicine, 2024

39215150 (PubMed )
Supplement: 41591_2024_3213_MOESM3_ESM.xlsx › Supplementary_Table_2

Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing.

Newman H et al.

Haematologica, 2024

38385299 (PubMed )
Supplement: 2023_284855_NEWMAN_SUPPL.pdf

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

Transient immune deficiency accompanied with homozygous CBL rare variant.

Morishita A et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2023

Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants.

Baccelli F et al.

Human Genomics, 2022

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 › ST4

Role of CBL Mutations in Cancer and Non-Malignant Phenotype.

Leardini D et al.

Cancers, 2022

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

Hecht A et al.

Haematologica, 2022

Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Bick AG et al.

Nature, 2020

33057201 (PubMed )
Supplement: NIHMS1609346-supplement-1609346_SuppTables.xlsx › S3

The genomic landscape of pediatric myelodysplastic syndromes.

Schwartz JR et al.

Nature Communications, 2017

29146900 (PubMed )
Supplement: 41467_2017_1590_MOESM9_ESM.xlsx › Sup._T6_-_TSCA_calls

Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression.

Pellagatti A et al.

Leukemia, 2016

25991409 (PubMed )
Supplement: leu2015129x2.xls › Sheet1

Activating CBL mutations are associated with a distinct MDS/MPN phenotype.

Schwaab J et al.

Annals of Hematology, 2012

Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia.

Saito Y et al.

Leukemia Research, 2012

Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias.

Rocquain J et al.

Bmc Cancer, 2010

20678218 (PubMed )
Supplement: 1471-2407-10-401-S1.PDF

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.

Loh ML et al.

Blood, 2009

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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."