Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.Y371S
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CBL

NM_005188.4:p.Y371S

Associated Papers

CBL-Mutated Juvenile Myelomonocytic Leukaemia With Loss of Heterozygosity on 11q Detected by Microarray: Not Always Such a Favourable Outcome.

Salvadores-Álvarez V et al.

International Journal of Laboratory Hematology, 2025

Expanded noninvasive prenatal screening for dominant single-gene disorders: proof-of-concept, performance, and challenges.

Chen S et al.

American Journal of Obstetrics and Gynecology, 2025

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

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

Genetic Study of HGF-MET Signaling Pathway in Primary Lymphedema Patients: Supporting Evidence for Loss of Function Variants in HGF.

Kozacikova R et al.

Lymphology, 2024

Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.

McCarter JGW et al.

Blood Advances, 2023

37142255 (PubMed )
Supplement: BLOODA_ADV-2023-009675-mmc1.xlsx › supplemental_Table_2-Mutations

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

Identification of a novel HOOK3-FGFR1 fusion gene involved in activation of the NF-kappaB pathway.

Zhang X et al.

Cancer Cell International, 2022

35081975 (PubMed )
Supplement: 12935_2022_2451_MOESM1_ESM.xlsx › Table_S3

HOXBLINC long non-coding RNA activation promotes leukemogenesis in NPM1-mutant acute myeloid leukemia.

Zhu G et al.

Nature Communications, 2021

33782403 (PubMed )
Supplement: 41467_2021_22095_MOESM1_ESM.pdf

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

Ahmed SF et al.

Oncogene, 2021

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Tarlock K et al.

Oncotarget, 2018

29899868 (PubMed )
Supplement: oncotarget-09-26417-s005.xlsx › genomics

Casitas B-lineage lymphoma linker helix mutations found in myeloproliferative neoplasms affect conformation.

Buetow L et al.

Bmc Biology, 2016

UBASH3B/Sts-1-CBL axis regulates myeloid proliferation in human preleukemia induced by AML1-ETO.

Goyama S et al.

Leukemia, 2016

The genomic landscape of juvenile myelomonocytic leukemia.

Stieglitz E et al.

Nature Genetics, 2015

26457647 (PubMed )
Supplement: NIHMS716600-supplement-1.pdf

[Diagnostic molecular pathology of lymphatic and myeloid neoplasms].

Klapper W et al.

Der Pathologe, 2015

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

CBL enhances breast tumor formation by inhibiting tumor suppressive activity of TGF-β signaling.

Kang JM et al.

Oncogene, 2012

Clinical and genetic study of 46 Italian patients with primary lymphedema.

Michelini S et al.

Lymphology, 2012

A high occurrence of acquisition and/or expansion of C-CBL mutant clones in the progression of high-risk myelodysplastic syndrome to acute myeloid leukemia.

Kao HW et al.

Neoplasia (new York, N.y.), 2011

[Gain-of-function mutation of c-CBL tumor suppressor gene in myeloid neoplasms].

Ogawa S

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2011

Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia.

Loh ML

British Journal of Haematology, 2011

Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia.

Pérez B et al.

British Journal of Haematology, 2010

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

Niemeyer CM et al.

Nature Genetics, 2010

Cbl and human myeloid neoplasms: the Cbl oncogene comes of age.

Kales SC et al.

Cancer Research, 2010

Gain-of-function c-CBL mutations associated with uniparental disomy of 11q in myeloid neoplasms.

Ogawa S et al.

Cell Cycle (georgetown, Tex.), 2010

Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms.

Sanada M et al.

Nature, 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."