Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.E839K
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KIT

NM_000222.3:p.E839K

Associated Papers

Novel KIT mutation, D816_N819delinsll, in a patient with systemic mastocytosis: a case report.

Juratli HA et al.

Virchows Archiv : an International Journal of Pathology, 2025

Clinical relevance of the somatic mutational landscaping in predicting outcome of bladder cancer patients.

Nedjadi T et al.

Scientific Reports, 2025

Mutational Landscape of KIT Proto-Oncogene Coding Sequence in 62 Canine Cutaneous and Subcutaneous Mast Cell Tumors.

Montanucci L et al.

Veterinary Sciences, 2024

Stimulating T cell responses against patient-derived breast cancer cells with neoantigen peptide-loaded peripheral blood mononuclear cells.

Sueangoen N et al.

Cancer Immunology, Immunotherapy : Cii, 2024

38349410 (PubMed )
Supplement: 262_2024_3627_MOESM5_ESM.pdf

Novel Molecular Therapies and Genetic Landscape in Selected Rare Diseases with Hematologic Manifestations: A Review of the Literature.

Ręka G et al.

Cells, 2023

Intratumoral heterogeneity of c-KIT mutations in a feline splenic mast cell tumor and their functional effects on cell proliferation.

Hasegawa Y et al.

Scientific Reports, 2022

Systemic Mastocytosis and Other Entities Involving Mast Cells: A Practical Review and Update.

El Hussein S et al.

Cancers, 2022

Targeted Next-Generation Sequencing of Thymic Epithelial Tumours Revealed Pathogenic Variants in KIT, ERBB2, KRAS, and TP53 in 30% of Thymic Carcinomas.

Szpechcinski A et al.

Cancers, 2022

Pathogenic and diagnostic relevance of KIT in primary mast cell activation disorders.

Muñoz-González JI et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2021

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Mastocytosis.

Tzankov A et al.

American Journal of Clinical Pathology, 2021

Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis.

Nedoszytko B et al.

International Journal of Molecular Sciences, 2021

Recent Advances in the Molecular Biology of Systemic Mastocytosis: Implications for Diagnosis, Prognosis, and Therapy.

Martelli M et al.

International Journal of Molecular Sciences, 2020

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Brown AL et al.

Plos Computational Biology, 2019

31034466 (PubMed )
Supplement: pcbi.1006981.s010.xlsx › final_benchmark

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Kim YS et al.

Bmc Urology, 2018

30064409 (PubMed )
Supplement: 12894_2018_380_MOESM1_ESM.xlsx › Supplementary_Table_1

Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Lee JY et al.

Translational Oncology, 2018

29161613 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Oncogene mutational analysis in Chinese gastrointestinal stromal tumor patients.

Chen Q et al.

Oncotargets and Therapy, 2018

Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Gudernova I et al.

Oncotarget, 2017

Genomic characteristics of trastuzumab-resistant Her2-positive metastatic breast cancer.

de Oliveira Taveira M et al.

Journal of Cancer Research and Clinical Oncology, 2017

Determination of somatic oncogenic mutations linked to target-based therapies using MassARRAY technology.

Ibarrola-Villava M et al.

Oncotarget, 2016

Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Lee JY et al.

Oncotarget, 2015

26527317 (PubMed )
Supplement: oncotarget-06-43731-s002.xlsx › Table_S1

Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Park K et al.

Oncotarget, 2015

26009992 (PubMed )
Supplement: oncotarget-06-24499-s002.xlsx › Supplementary_Table_1

Targeting phosphatidylinositol-3-kinase pathway for the treatment of Philadelphia-negative myeloproliferative neoplasms.

Pandey R et al.

Molecular Cancer, 2015

KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis.

Arock M et al.

Leukemia, 2015

Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.

Presneau N et al.

The Journal of Pathology. Clinical Research, 2015

27499898 (PubMed )
Supplement: CJP2-1-113-s004.xlsx › Sheet1

CD117 expression in breast phyllodes tumors correlates with adverse pathologic parameters and reduced survival.

Tan WJ et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2015

The impact of sensitive KIT D816V detection on recognition of indolent Systemic Mastocytosis.

De Matteis G et al.

Leukemia Research, 2015

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE et al.

The Journal of Molecular Diagnostics : Jmd, 2014

Hotspot mutations in common oncogenes are infrequent in nasopharyngeal carcinoma.

Jiang N et al.

Oncology Reports, 2014

Anaphylaxis as a clinical manifestation of clonal mast cell disorders.

Matito A et al.

Current Allergy and Asthma Reports, 2014

High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.

Kim S et al.

Plos One, 2014

25372287 (PubMed )
Supplement: pone.0111693.s003.xls › ion_ampliseq_cancer_panel_mutat

A c-kit mutation in exon 18 in familial mastocytosis.

Wöhrl S et al.

The Journal of Investigative Dermatology, 2013

Advanced systemic mastocytosis: the impact of KIT mutations in diagnosis, treatment, and progression.

Verstovsek S

European Journal of Haematology, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Common oncogenic mutations are infrequent in oral squamous cell carcinoma of Asian origin.

Zanaruddin SN et al.

Plos One, 2013

24224046 (PubMed )
Supplement: pone.0080229.s001.zip › File_S1 › Table_S3-OncoCarta_Assays.xlsx › Sheet1

Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Pommier SJ et al.

Annals of Surgical Oncology, 2012

21748247 (PubMed )
Supplement: 10434_2011_1892_MOESM2_ESM.pdf

Predicting the functional impact of protein mutations: application to cancer genomics.

Reva B et al.

Nucleic Acids Research, 2011

21727090 (PubMed )
Supplement: supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls › Sheet1

Mutational profiling reveals PIK3CA mutations in gallbladder carcinoma.

Deshpande V et al.

Bmc Cancer, 2011

21303542 (PubMed )
Supplement: 1471-2407-11-60-S1.XLS › Table_1_OM3_core_sites

The energy landscape analysis of cancer mutations in protein kinases.

Dixit A et al.

Plos One, 2011

21998754 (PubMed )
Supplement: pone.0026071.s009.doc

Recent advances in the diagnosis and classification of myeloid neoplasms--comments on the 2008 WHO classification.

Yin CC et al.

International Journal of Laboratory Hematology, 2010

Exploring the cause of drug resistance by the detrimental missense mutations in KIT receptor: computational approach.

Rajasekaran R et al.

Amino Acids, 2010

Profiling critical cancer gene mutations in clinical tumor samples.

MacConaill LE et al.

Plos One, 2009

19924296 (PubMed )
Supplement: pone.0007887.s002.xls › Table_S1_

Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1.

Tefferi A

Journal of Cellular and Molecular Medicine, 2009

Disruption of the EGFR E884-R958 ion pair conserved in the human kinome differentially alters signaling and inhibitor sensitivity.

Tang Z et al.

Oncogene, 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."