Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.V559D
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KIT

NM_000222.3:p.V559D

Associated Papers

Dideoxy Sequencing Enhances Detection of KIT Mutations in Gastrointestinal Stromal Tumors Initially Evaluated by Next-Generation Sequencing Hotspot Panels.

Robinson L et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.

Regan JA et al.

Plos One, 2026

41666166 (PubMed )
Supplement: pone.0339491.s009.xlsx › S2_Table

Computational prediction of human genetic variants in the mouse genome.

Dong K et al.

Nature Biotechnology, 2025

Performance and clinical utility of two targeted multigene panels for GIST molecular characterization.

Nannini M et al.

Scientific Reports, 2025

41407759 (PubMed )
Supplement: 41598_2025_30548_MOESM1_ESM.pdf

Oral Melanocytic Neoplasms: A Narrative Review.

Maldonado-Mendoza J

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2025

Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.

Colin-Leitzinger C et al.

Human Genomics, 2025

41331781 (PubMed )
Supplement: 40246_2025_847_MOESM1_ESM.pdf

Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.

Lv C et al.

Nature Aging, 2025

41286462 (PubMed )
Supplement: 43587_2025_1017_MOESM4_ESM.xlsx › Sheet1

Comprehensive Molecular Screening by Next Generation Sequencing of Gastrointestinal Stromal Tumors (GISTs): In Silico Analysis and Classification of Rare KIT Exon 11 Mutations.

Rodriquenz MG et al.

Cancer Medicine, 2025

Mutational landscape of gastrointestinal stromal tumors using next-generation sequencing of a 73-gene panel.

Wang C et al.

World Journal of Surgical Oncology, 2025

Olverembatinib, a multikinase inhibitor that modulates lipid metabolism, in advanced succinate dehydrogenase-deficient gastrointestinal stromal tumors: a phase 1b study and translational research.

Qiu HB et al.

Signal Transduction and Targeted Therapy, 2025

41184234 (PubMed )
Supplement: 41392_2025_2456_MOESM9_ESM.pdf

ctDNA as a Molecular Biomarker in the Phase II Trial of Imatinib plus Binimetinib in Patients with Advanced Gastrointestinal Stromal Tumor.

Kelly CM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Hemoglobin as a pseudoperoxidase and drug target for oxidative stress-related diseases.

Won W et al.

Signal Transduction and Targeted Therapy, 2025

40846833 (PubMed )
Supplement: 41392_2025_2366_MOESM1_ESM.docx

On-target toxicity limits the efficacy of CDK11 inhibition against cancers with 1p36 deletions.

Julian L et al.

Biorxiv : the Preprint Server for Biology, 2025

40766692 (PubMed )
Supplement: media-14.xlsx › Table_S14_-_KINOMEscan_data

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

Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.

Esai Selvan M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40778119 (PubMed )
Supplement: media-2.pdf

STX-721, a Covalent EGFR/HER2 Exon 20 Inhibitor, Utilizes Exon 20-Mutant Dynamic Protein States and Achieves Unique Mutant Selectivity Across Human Cancer Models.

Pagliarini RA et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

40465424 (PubMed )
Supplement: ccr-24-3833_supplementary_tables1_suppts1.xlsx › Table_2_-_kinomescan

M4205 (IDRX-42) Is a Highly Selective and Potent Inhibitor of Relevant Oncogenic Driver and Resistance Variants of KIT in Cancer.

Esdar C et al.

Molecular Cancer Therapeutics, 2025

Clonal Hematopoiesis of Indeterminate Potential Is Associated With Incident Abdominal Aortic Aneurysm.

Tan Y et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

40336477 (PubMed )
Supplement: atvb-2024-322630-s01.pdf

Effects of first‑line therapies in patients with locally advanced gastrointestinal stromal tumors with KIT and PDGFRα gene mutations: A single‑center study.

Su WC et al.

Oncology Letters, 2025

Concurrent Coprimary KIT Exon 17 and BRAF Mutations in a Small Intestinal GI Stromal Tumor-A Case Report.

Ishfaq H et al.

Journal of Gastrointestinal Cancer, 2025

Clinicopathological characteristics of progressive gastrointestinal stromal tumors and heterogeneity analyses of secondary mutations.

Li J et al.

The Oncologist, 2025

40377443 (PubMed )
Supplement: oyaf110_suppl_supplementary_tables_s1-s2.pdf

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S2

Dual Disruption of DNA Repair by a Novel CHK2 Inhibitor, ART-446, and Olaparib is a Promising Strategy for Triple-Negative Breast Cancer Therapy.

Kang HJ et al.

Biomolecules & Therapeutics, 2025

40195731 (PubMed )
Supplement: bt-33-3-458-supple.pdf

Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.

Colin-Leitzinger C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40166537 (PubMed )
Supplement: media-1.pdf

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

A Pulmonary Nodule with an Unexpected Mutation Profile.

Sun L et al.

Clinical Chemistry, 2025

A Cross-Sectional Study of Variant Interpretation and Reporting of NGS Data Using Tertiary Analysis Software: Navify® Mutation Profiler.

Pepe F et al.

Oncology and Therapy, 2025

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.

Wen S et al.

Nature Genetics, 2025

39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST_4

Image-Based Phenotypic Profiling Enables Rapid and Accurate Assessment of EGFR-Activating Mutations in Tissues from Lung Cancer Patients.

Lei Q et al.

Journal of the American Chemical Society, 2025

39745025 (PubMed )
Supplement: ja4c16528_si_001.pdf

Clonal Hematopoiesis Associates with Prevalent and Incident Cardiometabolic Disease in High-Risk Individuals.

Regan JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39867361 (PubMed )
Supplement: media-1.xlsx › Supplemental_Table_2

Discovery of MDI-114215: A Potent and Selective LIMK Inhibitor To Treat Fragile X Syndrome.

Baldwin AG et al.

Journal of Medicinal Chemistry, 2025

39711116 (PubMed )
Supplement: jm4c02694_si_002.pdf

Case Report: Gefitinib in EGFR 19del recurrent aggressive fibromatosis.

Guo Y et al.

Frontiers in Oncology, 2025

A case report of advanced small intestinal stromal tumor with KIT gene mutation and BRCA2 deletion after multi-line treatments.

Cui S et al.

Frontiers in Oncology, 2025

Discovery of a Novel Mutant-Selective Epidermal Growth Factor Receptor Inhibitor Using an In Silico Enabled Drug Discovery Platform.

Igawa H et al.

Journal of Medicinal Chemistry, 2024

39666597 (PubMed )
Supplement: jm4c01405_si_001.pdf

PIK3CA Mutations and Co-Mutations in Operated Non-Small Cell Lung Carcinoma.

Cokpinar S et al.

Journal of Clinical Medicine, 2024

39685930 (PubMed )
Supplement: jcm-13-07472-s001.zip › jcm-3207376-supplementary.pdf

Discovery of highly potent and ALK2/ALK1 selective kinase inhibitors using DNA-encoded chemistry technology.

Jimmidi R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

39541346 (PubMed )
Supplement: pnas.2413108121.sapp.pdf

Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.

Zuriaga MA et al.

European Heart Journal, 2024

39212933 (PubMed )
Supplement: ehae546_supplementary_data.pdf

Genomic and transcriptomic landscape of human gastrointestinal stromal tumors.

Xie F et al.

Nature Communications, 2024

39489749 (PubMed )
Supplement: 41467_2024_53821_MOESM1_ESM.pdf

A first-in-class Wiskott-Aldrich syndrome protein activator with antitumor activity in hematologic cancers.

Spriano F et al.

Haematologica, 2024

38899342 (PubMed )
Supplement: 2022_282672_SPRIANO_TABS4_SUPPL.xlsx › Discoverex-KINOMEscan

A diagnostic challenge of KIT p.V559D and BRAF p.G469A mutations in a paragastric mass.

Habringer S et al.

The Oncologist, 2024

Unidirectional association of clonal hematopoiesis with atherosclerosis development.

Díez-Díez M et al.

Nature Medicine, 2024

39215150 (PubMed )
Supplement: 41591_2024_3213_MOESM1_ESM.pdf

Strain-release alkylation of Asp12 enables mutant selective targeting of K-Ras-G12D.

Zheng Q et al.

Nature Chemical Biology, 2024

38443470 (PubMed )
Supplement: 41589_2024_1565_MOESM1_ESM.pdf

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

Suppression of Glioblastoma Stem Cell Potency and Tumor Growth via LRRK2 Inhibition.

Park S et al.

International Journal of Stem Cells, 2024

38584542 (PubMed )
Supplement: ijsc-17-3-319-supple.pdf

Association Between Clonal Hematopoiesis and Left Ventricular Reverse Remodeling in Nonischemic Dilated Cardiomyopathy.

Inoue S et al.

Jacc. Basic to Translational Science, 2024

39297129 (PubMed )
Supplement: mmc1.pdf

The Pan-RAF-MEK Nondegrading Molecular Glue NST-628 Is a Potent and Brain-Penetrant Inhibitor of the RAS-MAPK Pathway with Activity across Diverse RAS- and RAF-Driven Cancers.

Ryan MB et al.

Cancer Discovery, 2024

38588399 (PubMed )
Supplement: cd-24-0139_supplementary_table_1_suppst1.xlsx › US073-0023840-O_XIJ001-01-p-000
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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."