Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.G306E
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CBL

NM_005188.4:p.G306E

Associated Papers

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

CREG1 deficiency impaired myoblast differentiation and skeletal muscle regeneration.

Song H et al.

Journal of Cachexia, Sarcopenia and Muscle, 2024

CBL mutations drive PI3K/AKT signaling via increased interaction with LYN and PIK3R1.

Belizaire R et al.

Blood, 2021

E3 ligase-inactivation rewires CBL interactome to elicit oncogenesis by hijacking RTK-CBL-CIN85 axis.

Ahmed SF et al.

Oncogene, 2021

Sleuthing biochemical evidence to elucidate unassigned electron density in a CBL-SLAP2 crystal complex.

Wybenga-Groot LE et al.

Acta Crystallographica. Section F, Structural Biology Communications, 2021

E3 Ubiquitin Ligase-Mediated Regulation of Osteoblast Differentiation and Bone Formation.

Shen J et al.

Frontiers in Cell and Developmental Biology, 2021

C-Cbl negatively regulates TRAF6-mediated NF-κB activation by promoting K48-linked polyubiquitination of TRAF6.

Jang HD et al.

Cellular & Molecular Biology Letters, 2019

De novo activating mutations drive clonal evolution and enhance clonal fitness in KMT2A-rearranged leukemia.

Hyrenius-Wittsten A et al.

Nature Communications, 2018

Structural Determinants of the Gain-of-Function Phenotype of Human Leukemia-associated Mutant CBL Oncogene.

Nadeau SA et al.

The Journal of Biological Chemistry, 2017

c-Cbl mediates the degradation of tumorigenic nuclear β-catenin contributing to the heterogeneity in Wnt activity in colorectal tumors.

Shashar M et al.

Oncotarget, 2016

The E3 ubiquitin ligase c-Cbl mediates integrin β1 ubiquitination during dilated cardiomyopathy.

Yang N et al.

Biochemical and Biophysical Research Communications, 2016

Casitas B-lineage lymphoma mutants activate AKT to induce transformation in cooperation with class III receptor tyrosine kinases.

Polzer H et al.

Experimental Hematology, 2013

E3 ubiquitin ligase-mediated regulation of bone formation and tumorigenesis.

Sévère N et al.

Cell Death & Disease, 2013

Protein tyrosine kinase regulation by ubiquitination: critical roles of Cbl-family ubiquitin ligases.

Mohapatra B et al.

Biochimica Et Biophysica Acta, 2013

EphrinA2 regulates clathrin mediated KSHV endocytosis in fibroblast cells by coordinating integrin-associated signaling and c-Cbl directed polyubiquitination.

Dutta D et al.

Plos Pathogens, 2013

Oncogenic Signaling by Leukemia-Associated Mutant Cbl Proteins.

Nadeau S et al.

Biochemistry and Analytical Biochemistry : Current Research, 2012

c-Cbl regulates glioma invasion through matrix metalloproteinase 2.

Lee H et al.

Journal of Cellular Biochemistry, 2010

Deregulated intracellular signaling by mutated c-CBL in myeloid neoplasms.

Ogawa S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010

c-Cbl tyrosine kinase-binding domain mutant G306E abolishes the interaction of c-Cbl with CD38 and fails to promote retinoic acid-induced cell differentiation and G0 arrest.

Shen M et al.

The Journal of Biological Chemistry, 2009

Structural basis for a novel intrapeptidyl H-bond and reverse binding of c-Cbl-TKB domain substrates.

Ng C et al.

The Embo Journal, 2008

Ligand binding induces Cbl-dependent EphB1 receptor degradation through the lysosomal pathway.

Fasen K et al.

Traffic (copenhagen, Denmark), 2008

Identification and functional characterization of an Src homology domain 3 domain-binding site on Cbl.

Sanjay A et al.

The Febs Journal, 2006

Cbl and Akt regulate CXCL8-induced and CXCR1- and CXCR2-mediated chemotaxis.

Lane HC et al.

International Immunology, 2006

The multidomain protooncogenic protein c-Cbl binds to tubulin and stabilizes microtubules.

Teckchandani AM et al.

Experimental Cell Research, 2005

Cbl-mediated ubiquitination of alpha5 integrin subunit mediates fibronectin-dependent osteoblast detachment and apoptosis induced by FGFR2 activation.

Kaabeche K et al.

Journal of Cell Science, 2005

Molecular basis for a direct interaction between the Syk protein-tyrosine kinase and phosphoinositide 3-kinase.

Moon KD et al.

The Journal of Biological Chemistry, 2005

Ubiquitin ligase activity of c-Cbl guides the epidermal growth factor receptor into clathrin-coated pits by two distinct modes of Eps15 recruitment.

de Melker AA et al.

The Journal of Biological Chemistry, 2004

Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation.

Kaabeche K et al.

The Journal of Biological Chemistry, 2004

Regulation of ubiquitin protein ligase activity in c-Cbl by phosphorylation-induced conformational change and constitutive activation by tyrosine to glutamate point mutations.

Kassenbrock CK et al.

The Journal of Biological Chemistry, 2004

A mouse with a loss-of-function mutation in the c-Cbl TKB domain shows perturbed thymocyte signaling without enhancing the activity of the ZAP-70 tyrosine kinase.

Thien CB et al.

The Journal of Experimental Medicine, 2003

The multi-adaptor proto-oncoprotein Cbl is a key regulator of Rac and actin assembly.

Scaife RM et al.

Journal of Cell Science, 2003

An essential role of ubiquitination in Cbl-mediated negative regulation of the Src-family kinase Fyn.

Rao N et al.

Signal Transduction, 2002

Negative regulation of EphA2 receptor by Cbl.

Wang Yj et al.

Biochemical and Biophysical Research Communications, 2002

The kinase-null EphB6 receptor undergoes transphosphorylation in a complex with EphB1.

Freywald A et al.

The Journal of Biological Chemistry, 2002

A mutant EGF-receptor defective in ubiquitylation and endocytosis unveils a role for Grb2 in negative signaling.

Waterman H et al.

The Embo Journal, 2002

Mutation of the c-Cbl TKB domain binding site on the Met receptor tyrosine kinase converts it into a transforming protein.

Peschard P et al.

Molecular Cell, 2001

Src-catalyzed phosphorylation of c-Cbl leads to the interdependent ubiquitination of both proteins.

Yokouchi M et al.

The Journal of Biological Chemistry, 2001

The linker phosphorylation site Tyr292 mediates the negative regulatory effect of Cbl on ZAP-70 in T cells.

Rao N et al.

Journal of Immunology (baltimore, Md. : 1950), 2000

Src family kinases negatively regulate platelet-derived growth factor alpha receptor-dependent signaling and disease progression.

Rosenkranz S et al.

The Journal of Biological Chemistry, 2000

The RING finger domain of Cbl is essential for negative regulation of the Syk tyrosine kinase.

Ota S et al.

The Journal of Biological Chemistry, 2000

c-Cbl localizes to actin lamellae and regulates lamellipodia formation and cell morphology.

Scaife RM et al.

Journal of Cell Science, 2000

Inhibition of signaling through the B cell antigen receptor by the protooncogene product, c-Cbl, requires Syk tyrosine 317 and the c-Cbl phosphotyrosine-binding domain.

Yankee TM et al.

Journal of Immunology (baltimore, Md. : 1950), 1999

Enhancement of fcgamma receptor-mediated phagocytosis by transforming mutants of Cbl.

Sato N et al.

Journal of Immunology (baltimore, Md. : 1950), 1999

Ligand-induced ubiquitination of the epidermal growth factor receptor involves the interaction of the c-Cbl RING finger and UbcH7.

Yokouchi M et al.

The Journal of Biological Chemistry, 1999

Cbl-mediated negative regulation of platelet-derived growth factor receptor-dependent cell proliferation. A critical role for Cbl tyrosine kinase-binding domain.

Miyake S et al.

The Journal of Biological Chemistry, 1999

The proto-oncogene c-Cbl is a negative regulator of DNA synthesis initiated by both receptor and cytoplasmic tyrosine kinases.

Broome MA et al.

Oncogene, 1999

Activation of nuclear factor of activated T cells-(NFAT) and activating protein 1 (AP-1) by oncogenic 70Z Cbl requires an intact phosphotyrosine binding domain but not Crk(L) or p85 phosphatidylinositol 3-kinase association.

van Leeuwen JE et al.

The Journal of Biological Chemistry, 1999

Cbl-mediated negative regulation of the Syk tyrosine kinase. A critical role for Cbl phosphotyrosine-binding domain binding to Syk phosphotyrosine 323.

Lupher ML et al.

The Journal of Biological Chemistry, 1998

c-Cbl: a regulator of T cell receptor-mediated signalling.

Thien CB et al.

Immunology and Cell Biology, 1998

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