Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.P417L
Back to variants list

CBL

NM_005188.4:p.P417L

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

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

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

Relationship between additional mutations at diagnosis and treatment response in patients with essential thrombocythemia.

Mosnier C et al.

Blood Advances, 2025

39820709 (PubMed )
Supplement: BLOODA_ADV-2024-014791-mmc1.pdf

Molecular Features of Resected Melanoma Brain Metastases, Clinical Outcomes, and Responses to Immunotherapy.

Vasudevan HN et al.

Jama Network Open, 2023

37589977 (PubMed )
Supplement: jamanetwopen-e2329186-s001.xlsx › TableS1

Transient immune deficiency accompanied with homozygous CBL rare variant.

Morishita A et al.

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

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

Integrative Genomic Profiling Uncovers Therapeutic Targets of Acral Melanoma in Asian Populations.

Shi Q et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

35294533 (PubMed )
Supplement: ccr-21-3344_supplementary_data_suppsd1.xlsx › Table_S6

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Sánchez-Rivera FJ et al.

Nature Biotechnology, 2022

35165384 (PubMed )
Supplement: NIHMS1760571-supplement-Supplementary_Table_S2.xlsx › Table_S2D

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

Heterogeneous disease-propagating stem cells in juvenile myelomonocytic leukemia.

Louka E et al.

The Journal of Experimental Medicine, 2021

33416891 (PubMed )
Supplement: JEM_20180853_TableS1.xlsx › Clincal___Hematologic_Data

Personalized cancer therapy prioritization based on driver alteration co-occurrence patterns.

Mateo L et al.

Genome Medicine, 2020

32907621 (PubMed )
Supplement: 13073_2020_774_MOESM1_ESM.zip › SupplementaryTables › TableS2.xlsx › Driver_Mutations

Chronic myelomonocytic leukaemia stem cell transcriptomes anticipate disease morphology and outcome.

Wiseman DH et al.

Ebiomedicine, 2020

32763828 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Desmoplastic melanoma with sarcomatoid dedifferentiation.

Kiuru M et al.

The American Journal of Surgical Pathology, 2014

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Kiel C et al.

Molecular Systems Biology, 2014

24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies

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

Gain of CBL-interacting protein, a possible alternative to CBL mutations in myeloid malignancies.

Adélaïde J et al.

Leukemia, 2010

Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms.

Grand FH et al.

Blood, 2009

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."