Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.F522C
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KIT

NM_000222.3:p.F522C

Associated Papers

Well-differentiated systemic mastocytosis: Genetics, mast cell immunophenotypes, and KIT autophosphorylation.

Schornack BJ et al.

The Journal of Allergy and Clinical Immunology, 2025

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Pathogenic Mechanisms of Systemic Mastocytosis: Unraveling the Genetic Complexity, Bone Marrow Microenvironment, and Clinical Challenges.

Sotiropoulou CD et al.

European Journal of Haematology, 2025

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

Therapeutic advances of targeting receptor tyrosine kinases in cancer.

Tomuleasa C et al.

Signal Transduction and Targeted Therapy, 2024

Prevalence and impact of the KIT M541L variant in patients with mastocytosis.

Aldama LND et al.

Oncotarget, 2024

Poor Applicability of Currently Available Prognostic Scoring Systems for Prediction of Outcome in KIT D816V-Negative Advanced Systemic Mastocytosis.

Naumann N et al.

Cancers, 2024

KIT V560D-Mutated Systemic Mastocytosis Associated With High-Risk Myelodysplastic Syndrome: A Unique Case of Systemic Mastocytosis-Associated Hematologic Neoplasm.

Medawar G et al.

Case Reports in Hematology, 2024

Mastocytosis and related entities: a practical roadmap.

Beyens M et al.

Acta Clinica Belgica, 2023

Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management.

Pardanani A

American Journal of Hematology, 2023

Recalcitrant Cutaneous Mastocytosis Treated With Genetically Informed Targeted Therapy: A Case Report.

Gleason L et al.

International Journal of Dermatology and Venereology, 2023

Case Report: Molecular and microenvironment change upon midostaurin treatment in mast cell leukemia at single-cell level.

Liu MK et al.

Frontiers in Immunology, 2023

c-Kit Receptors as a Therapeutic Target in Cancer: Current Insights.

Abdellateif MS et al.

Oncotargets and Therapy, 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

Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

González-López O et al.

Cancers, 2022

Mutated KIT Tyrosine Kinase as a Novel Molecular Target in Acute Myeloid Leukemia.

Katagiri S et al.

International Journal of Molecular Sciences, 2022

Precision Medicine in Systemic Mastocytosis.

Nicolosi M et al.

Medicina (kaunas, Lithuania), 2021

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

Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis.

Nedoszytko B et al.

International Journal of Molecular Sciences, 2021

Systemic Mastocytosis: Molecular Landscape and Implications for Treatment.

Monaldi C et al.

Mediterranean Journal of Hematology and Infectious Diseases, 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

Systemic Mastocytosis: Following the Tyrosine Kinase Inhibition Roadmap.

Piris-Villaespesa M et al.

Frontiers in Pharmacology, 2020

Well-differentiated systemic mastocytosis with KIT K509I mutation and uterus infiltration in an Asian woman with good response to imatinib.

Zhao DD et al.

Chinese Medical Journal, 2019

More than the sum of the parts: Toward full-length receptor tyrosine kinase structures.

Diwanji D et al.

Iubmb Life, 2019

Molecular response to imatinib in KIT F522C-mutated systemic mastocytosis.

Broderick V et al.

Leukemia Research, 2019

Computational analysis reveals histotype-dependent molecular profile and actionable mutation effects across cancers.

Heim D et al.

Genome Medicine, 2018

30442178 (PubMed )
Supplement: 13073_2018_591_MOESM4_ESM.xlsx › Table_S2

The role of small molecule Kit protein-tyrosine kinase inhibitors in the treatment of neoplastic disorders.

Roskoski R

Pharmacological Research, 2018

Imatinib in systemic mastocytosis: a phase IV clinical trial in patients lacking exon 17 KIT mutations and review of the literature.

Alvarez-Twose I et al.

Oncotarget, 2017

The clinical and molecular diversity of mast cell leukemia with or without associated hematologic neoplasm.

Jawhar M et al.

Haematologica, 2017

Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome.

Conde-Fernandes I et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2017

Targeted Treatment Options in Mastocytosis.

Vaes M et al.

Frontiers in Medicine, 2017

Well-differentiated systemic mastocytosis showed excellent clinical response to imatinib in the absence of known molecular genetic abnormalities: A case report.

Huang L et al.

Medicine, 2016

Targeted ultradeep next-generation sequencing as a method for KIT D816V mutation analysis in mastocytosis.

Kristensen T et al.

European Journal of Haematology, 2016

Clinical and Molecular Diagnostic Evaluation of Systemic Mastocytosis in the South-Eastern Hungarian Population Between 2001-2013--A Single Centre Experience.

Marton I et al.

Pathology Oncology Research : Por, 2016

A scientific treatment approach for acute mast cell leukemia: using a strategy based on next-generation sequencing data.

Youk J et al.

Blood Research, 2016

Clinical, immunophenotypic, and molecular characteristics of well-differentiated systemic mastocytosis.

Álvarez-Twose I et al.

The Journal of Allergy and Clinical Immunology, 2016

Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis.

Ke H et al.

Cell & Bioscience, 2016

Molecular changes associated with the development of resistance to imatinib in an imatinib-sensitive canine neoplastic mast cell line carrying a KIT c.1523A>T mutation.

Kobayashi M et al.

European Journal of Haematology, 2015

Tyrosine Kinase Inhibitors and Therapeutic Antibodies in Advanced Eosinophilic Disorders and Systemic Mastocytosis.

Gotlib J

Current Hematologic Malignancy Reports, 2015

KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome.

Brahmi M et al.

Bmc Cancer, 2015

Gene of the month: KIT.

Roberts R et al.

Journal of Clinical Pathology, 2015

Mastocytosis: a mutated KIT receptor induced myeloproliferative disorder.

Chatterjee A et al.

Oncotarget, 2015

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

Evolutionary-guided de novo structure prediction of self-associated transmembrane helical proteins with near-atomic accuracy.

Wang Y et al.

Nature Communications, 2015

The genetic basis of mast cell activation disease - looking through a glass darkly.

Molderings GJ

Critical Reviews in Oncology/hematology, 2015

Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype.

Chan EC et al.

The Journal of Allergy and Clinical Immunology, 2014

Functional deregulation of KIT: link to mast cell proliferative diseases and other neoplasms.

Cruse G et al.

Immunology and Allergy Clinics of North America, 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."