Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.R420Q
Back to variants list

CBL

NM_005188.4:p.R420Q

Associated Papers

Clonal haematopoiesis of indeterminate potential and mortality in coronary artery disease.

von Scheidt M et al.

European Heart Journal, 2026

40900105 (PubMed )
Supplement: ehaf602_supplementary_data.pdf

Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.

Regan JA et al.

Plos One, 2026

41666166 (PubMed )
Supplement: pone.0339491.s009.xlsx › S4_Table

Landscape and clinicopathologic features of RAS pathway mutations in chronic myelomonocytic leukemia.

Montalban-Bravo G et al.

Blood Advances, 2025

Long-term outcomes in FLT3-mutated acute myeloid leukemia after frontline hypomethylating agent, venetoclax and a FLT3 inhibitor.

Short NJ et al.

Haematologica, 2025

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Clonal haematopoiesis associates with distinct cytometric changes of red blood cells and platelets.

Salzbrunn JB et al.

British Journal of Haematology, 2025

40754673 (PubMed )
Supplement: BJH-207-1085-s002.xlsx › CH_cohort

Locking CBL TKBD in its native conformation presents a novel therapeutic opportunity in mutant CBL-dependent leukemia.

Ahmed SF et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025

Genetic mechanisms of resistance to targeted KRAS inhibition.

Diaz BJ et al.

Biorxiv : the Preprint Server for Biology, 2025

40799582 (PubMed )
Supplement: media-3.xlsx › Table_S1B

Comprehensive Genomic Profiles of Melanoma in Veterans Compared to Reference Databases.

Mettman D et al.

Federal Practitioner : for the Health Care Professionals of the Va, Dod, and Phs, 2025

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc5.xlsx › Sheet1

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

Low WT1 Expression Identifies a Subset of Acute Myeloid Leukemia with a Distinct Genotype.

Rondoni M et al.

Cancers, 2025

40227798 (PubMed )
Supplement: cancers-17-01213-s001.zip › cancers-3416916-supplementary.pdf

A microglia clonal inflammatory disorder in Alzheimer's disease.

Vicario R et al.

Elife, 2025

Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.

Riviere-Cazaux C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39715486 (PubMed )
Supplement: ccr-24-1814_supplemental_table_2_suppts2.xlsx › Sheet1

Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction.

Baldazzi C et al.

International Journal of Molecular Sciences, 2025

39940930 (PubMed )
Supplement: ijms-26-01162-s001.zip › Supplementary_Table_S1.xlsx › Supplementary_Table_1

Clonal Hematopoiesis Associates with Prevalent and Incident Cardiometabolic Disease in High-Risk Individuals.

Regan JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39867361 (PubMed )
Supplement: media-1.xlsx › Supplemental_Table_4

Clonal hematopoiesis impacts frailty in newly diagnosed multiple myeloma patients: a retrospective multicenter analysis.

Gelli E et al.

Scientific Reports, 2024

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

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.

Kim J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39802765 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_2

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

Beyond myeloid neoplasms germline guidelines: Validation of the thresholds criteria in the search of germline predisposition variants.

Mestre J et al.

Ejhaem, 2024

A microglia clonal inflammatory disorder in Alzheimer's Disease.

Vicario R et al.

Biorxiv : the Preprint Server for Biology, 2024

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.

Stellacci E et al.

American Journal of Medical Genetics. Part A, 2024

BRAF Mutations in Patients with Myeloid Neoplasms: A Cancer Center Multigene Next-Generation Sequencing Analysis Experience.

Fei F et al.

International Journal of Molecular Sciences, 2024

Demographics and additional haematologic cancers of patients with histiocytic/dendritic cell neoplasms.

Kemps PG et al.

Histopathology, 2024

Long-term remission of infantile Takayasu arteritis associated with germline CBL syndrome after allogeneic hematopoietic stem cell transplantation: A case report and literature review.

Munoz-Osores E et al.

Transplant Immunology, 2024

Sequencing of cerebrospinal fluid cell-free DNA facilitated early differential diagnosis of intramedullary spinal cord tumors.

Chai R et al.

Npj Precision Oncology, 2024

38388726 (PubMed )
Supplement: 41698_2024_541_MOESM1_ESM.pdf

Targeting lysine demethylase 6B ameliorates ASXL1 truncation-mediated myeloid malignancies in preclinical models.

Ge G et al.

The Journal of Clinical Investigation, 2024

37917239 (PubMed )
Supplement: jci-134-163964-s174.pdf

Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.

Sosinsky A et al.

Nature Medicine, 2024

38200255 (PubMed )
Supplement: 41591_2023_2682_MOESM3_ESM.xlsx › Table_S1

CBL mutations in chronic myelomonocytic leukemia often occur in the RING domain with multiple subclones per patient: Implications for targeting.

Lim K et al.

Plos One, 2024

Clonal hematopoiesis with DNMT3A and PPM1D mutations impairs regeneration in autologous stem cell transplant recipients.

Stelmach P et al.

Haematologica, 2023

37381752 (PubMed )
Supplement: 2023_282992_STELMACH_SUPPL.pdf

Common clonal origin of three distinct hematopoietic neoplasms in a single patient: B-cell lymphoma, T-cell lymphoma, and polycythemia vera.

Nkosi D et al.

Cold Spring Harbor Molecular Case Studies, 2023

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM13_ESM.xls › Sheet1

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

Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.

Uddin MM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37732181 (PubMed )
Supplement: media-2.xlsx › Table_S3

Clonal haematopoiesis of indeterminate potential in patients with venous thromboembolism.

Guillotin F et al.

Journal of Thrombosis and Thrombolysis, 2023

Clinical Characteristics and Outcomes of Patients with Primary and Secondary Myelofibrosis According to the Genomic Classification Using Targeted Next-Generation Sequencing.

Garrote M et al.

Cancers, 2023

37568719 (PubMed )
Supplement: cancers-15-03904-s001.zip › cancers-2478235-supplementary.pdf

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2

Somatic CBL mutation presenting as juvenile myelomonocytic leukemia with vasculitis.

Mishra V et al.

Pediatric Blood & Cancer, 2023

CNL and aCML should be considered as a single entity based on molecular profiles and outcomes.

Carreño-Tarragona G et al.

Blood Advances, 2023

36375042 (PubMed )
Supplement: BLOODA_ADV-2022-008204-mmc1.pdf

Genomic Alterations, Gene Expression Profiles and Functional Enrichment of Normal-Karyotype Acute Myeloid Leukaemia Based on Targeted Next-Generation Sequencing.

Ambayya A et al.

Cancers, 2023

36900179 (PubMed )
Supplement: cancers-15-01386-s001.zip › Supplementary_File_S2.xlsx › Table_S7.Summary_of_variants

Co-mutation landscape and clinical significance of RAS pathway related gene mutations in patients with myelodysplastic syndrome.

Ren Y et al.

Hematological Oncology, 2023

Transient immune deficiency accompanied with homozygous CBL rare variant.

Morishita A et al.

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

Analytical validation and implementation of a pan cancer next-generation sequencing panel, CANSeqTMKids for molecular profiling of childhood malignancies.

Schilter KF et al.

Frontiers in Genetics, 2023

The clinical relevance of broad mutational screening of myeloproliferative neoplasms at diagnosis.

Pettersson H et al.

Frontiers in Oncology, 2023

37637067 (PubMed )
Supplement: Table_1.xlsx › Supplementary_table_1
1–50 of 158 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."