Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.K509I
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KIT

NM_000222.3:p.K509I

Associated Papers

Impact of Molecular Evaluations in the Biology, Diagnosis, and Prognostication of Patients With Mastocytosis.

Hoermann G et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2026

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

Computational modeling of human genetic variants in mice.

Dong K et al.

Biorxiv : the Preprint Server for Biology, 2025

40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_6_KIT_pathogenecity.xlsx › Sheet2_SIFT

Fedratinib and gandotinib induce apoptosis and enhance the efficacy of tyrosine kinase inhibitors in human mast cells.

Makeeva A et al.

American Journal of Cancer Research, 2025

Establishment and validation of a gene mutation-based risk model for predicting prognosis and therapy response in acute myeloid leukemia.

Liu Y et al.

Heliyon, 2024

38831838 (PubMed )
Supplement: mmc3.xlsx › Sheet1

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

Diffuse Cutaneous Mastocytosis: A Current Understanding of a Rare Disease.

Rydz A et al.

International Journal of Molecular Sciences, 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

Diagnosis, Treatment, and Prognosis of Patients with Primary Familial Gastrointestinal Stromal Tumor: A Case Report and Literature Review.

Yan M et al.

The Oncologist, 2023

37311038 (PubMed )
Supplement: oyad168_suppl_supplementary_table_s1.docx

Antibody-Based and Cell Therapies for Advanced Mastocytosis: Established and Novel Concepts.

Valent P et al.

International Journal of Molecular Sciences, 2023

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

KITD816V mutation in blood for the diagnostic screening of systemic mastocytosis and mast cell activation syndromes.

Navarro-Navarro P et al.

Allergy, 2023

Clinicopathological and mutational characteristics of primary double mutant gastrointestinal stromal tumor: a single center study with review of the literature.

Yan J et al.

Bmc Cancer, 2023

Genomics-Driven Precision Medicine in Pediatric Solid Tumors.

Suthapot P et al.

Cancers, 2023

Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations.

Mandelker D et al.

Npj Precision Oncology, 2023

Molecular and Functional Heterogeneity of Primary Pancreatic Neuroendocrine Tumors and Metastases.

Guo Y et al.

Neuroendocrinology, 2023

37232011 (PubMed )
Supplement: Supplementary_material-Suppl.7-s7.xls › Table_S6

A literature review and database of how the primary KIT/PDGFRA variant of a gastrointestinal stromal tumour predicts for sensitivity to imatinib.

Wong NACS et al.

Cancer Genetics, 2022

Mast cell neoplasm: a challenging pathological diagnosis.

Natal RA et al.

Human Pathology, 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

Broad spectrum of regorafenib activity on mutant KIT and absence of clonal selection in gastrointestinal stromal tumor (GIST): correlative analysis from the GRID trial.

Jeffers M et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2022

35050442 (PubMed )
Supplement: 10120_2021_1274_MOESM1_ESM.docx

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

Update on Molecular Genetics of Gastrointestinal Stromal Tumors.

Brčić I et al.

Diagnostics (basel, Switzerland), 2021

Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis.

Nedoszytko B et al.

International Journal of Molecular Sciences, 2021

Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.

Arindrarto W et al.

Leukemia, 2021

32127641 (PubMed )
Supplement: 41375_2020_762_MOESM1_ESM.pdf

Increased TPSAB1 Copy Number in a Family With Elevated Basal Serum Levels of Tryptase.

Hernández-Hernández L et al.

Frontiers in Medicine, 2021

Systemic Mastocytosis: Molecular Landscape and Implications for Treatment.

Monaldi C et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2021

A Novel Kindred with Familial Gastrointestinal Stromal Tumors Caused by a Rare KIT Germline Mutation (N655K): Clinico-Pathological Presentation and TKI Sensitivity.

Fornasarig M et al.

Journal of Personalized Medicine, 2020

Genotype and phenotype analysis of patients with pediatric cutaneous mastocytosis, especially wild-type KIT patients.

Arase N et al.

The Journal of Dermatology, 2020

Systemic Mastocytosis: Following the Tyrosine Kinase Inhibition Roadmap.

Piris-Villaespesa M et al.

Frontiers in Pharmacology, 2020

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

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

The Role of KIT Mutations in Anaphylaxis.

Coulson E et al.

Current Allergy and Asthma Reports, 2019

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

Validation of the Oncomine™ focus panel for next-generation sequencing of clinical tumour samples.

Williams HL et al.

Virchows Archiv : an International Journal of Pathology, 2018

30105577 (PubMed )
Supplement: 428_2018_2411_MOESM1_ESM.xlsx › REF2

Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis.

Otani IM et al.

Clinical Case Reports, 2018

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 3

How we diagnose and treat systemic mastocytosis in adults.

Scherber RM et al.

British Journal of Haematology, 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

Correlation of Long-term Results of Imatinib in Advanced Gastrointestinal Stromal Tumors With Next-Generation Sequencing Results: Analysis of Phase 3 SWOG Intergroup Trial S0033.

Heinrich MC et al.

Jama Oncology, 2017

Familial Gastrointestinal Stromal Tumor with Germline KIT Mutations Accompanying Hereditary Breast and Ovarian Cancer Syndrome.

Sekido Y et al.

Anticancer Research, 2017

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