Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.P417S
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CBL

NM_005188.4:p.P417S

Associated Papers

Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.

Umeda M et al.

Blood, 2025

40700635 (PubMed )
Supplement: BLOOD_BLD-2025-028993-mmc2.xlsx › Supplementary_Table_6

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

Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.

Umeda M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974131 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_6

Impact of gene alterations on clinical outcome in young adults with myelodysplastic syndromes.

Konishi T et al.

Scientific Reports, 2023

36788335 (PubMed )
Supplement: 41598_2023_29794_MOESM2_ESM.xlsx › Supplementary_Table_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 › ST4

Longitudinal profiling of clonal hematopoiesis provides insight into clonal dynamics.

Uddin MM et al.

Immunity & Ageing : I & A, 2022

35610705 (PubMed )
Supplement: 12979_2022_278_MOESM2_ESM.xlsx › Table_S2

The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Karachaliou GS et al.

Bmc Cancer, 2022

34986841 (PubMed )
Supplement: 12885_2021_8908_MOESM2_ESM.xlsx › APC_CTNNB1_wild_type

Clinical significance of chromatin-spliceosome acute myeloid leukemia: a report from the Northern Italy Leukemia Group (NILG) randomized trial 02/06.

Caprioli C et al.

Haematologica, 2021

32855275 (PubMed )
Supplement: 2020_252825_CAPRIOLI_SUPPL.pdf

Definition of Biologically Distinct Groups of Conjunctival Melanomas According to Etiological Factors and Implications for Precision Medicine.

Gardrat S et al.

Cancers, 2021

Mitogen-activated protein kinase dependency in BRAF/RAS wild-type melanoma: A rationale for combination inhibitors.

Ming Z et al.

Pigment Cell & Melanoma Research, 2020

Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.

Jiang L et al.

American Journal of Cancer Research, 2020

A Three-dimensional Ex Vivo Viability Assay Reveals a Strong Correlation Between Response to Targeted Inhibitors and Mutation Status in Melanoma Lymph Node Metastases.

Flørenes VA et al.

Translational Oncology, 2019

31096111 (PubMed )
Supplement: mmc1.xlsx › Blad1

Deep Sequencing of Cell-Free Peripheral Blood DNA as a Reliable Method for Confirming the Diagnosis of Myelodysplastic Syndrome.

Albitar F et al.

Genetic Testing and Molecular Biomarkers, 2016

BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.

Kemper K et al.

Cell Reports, 2016

27320919 (PubMed )
Supplement: mmc2.xlsx › Mutation_matrix

Applicability of next-generation sequencing to decalcified formalin-fixed and paraffin-embedded chronic myelomonocytic leukaemia samples.

Bernard V et al.

International Journal of Clinical and Experimental Pathology, 2014

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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."