Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.V560G
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KIT

NM_000222.3:p.V560G

Associated Papers

Retrospective Study of Trametinib in Patients With Advanced NF1-Mutant Melanoma.

Wang L et al.

Jco Precision Oncology, 2026

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

Sporadic Multiple Gastrointestinal Stromal Tumors With Distinct KIT and PDGFRA Mutations in Two Separate Tumors: A Case Report and Literature Review.

Akincioglu E et al.

International Journal of Surgical Pathology, 2025

Computational prediction of human genetic variants in the mouse genome.

Dong K et al.

Nature Biotechnology, 2025

Programmable Argonaute-mediated single-nucleotide variant sequencing of cell-free DNA for multi-cancer early detection.

Guo C et al.

Nature Communications, 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

Telomere occupancy by TRF2 is altered by KIT mutations and correlates with mastocytosis regression.

Bruneau J et al.

Blood Cancer Journal, 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

Systematic artifacts from Illumina two-color chemistry confound variant identification and actionability in clinical panels.

Jin H et al.

Medrxiv : the Preprint Server for Health Sciences, 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

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

Clinical and Biological Characteristics of Four Patients with Aggressive Systemic Mastocytosis Treated with Midostaurin.

Soare D et al.

Biomedicines, 2025

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

40018846 (PubMed )
Supplement: mct-24-0699_supplementary_table_s4_supps4.pdf

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

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

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 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

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

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

Recurrent gastrointestinal stromal tumor with c-KIT double exon mutations: A rare case report.

Zhu N et al.

Cytojournal, 2025

Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.

Zuriaga MA et al.

European Heart Journal, 2024

39212933 (PubMed )
Supplement: ehae546_supplementary_data.pdf

Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update.

He C et al.

Current Treatment Options in Oncology, 2024

Detection of KIT Mutations in Systemic Mastocytosis: How, When, and Why.

Cilloni D et al.

International Journal of Molecular Sciences, 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

Therapeutic advances of targeting receptor tyrosine kinases in cancer.

Tomuleasa C et al.

Signal Transduction and Targeted Therapy, 2024

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

Whole-exome sequencing has revealed novel genetic characteristics in intracranial germ cell tumours in the Chinese.

Huang X et al.

Histopathology, 2024

Unraveling the Rare Entity of KIT D816V-Negative Systemic Mastocytosis.

Alyamany R et al.

Journal of Hematology, 2024

Pharmaco-phosphoproteomic analysis of cancer-associated KIT mutations D816V and V560G.

Murray HC et al.

Proteomics, 2024

TurboID-Based IRE1 Interactome Reveals Participants of the Endoplasmic Reticulum-Associated Protein Degradation Machinery in the Human Mast Cell Leukemia Cell Line HMC-1.2.

Ahmed N et al.

Cells, 2024

Activation of the receptor KIT induces the secretion of exosome-like small extracellular vesicles.

Pfeiffer A et al.

Journal of Extracellular Biology, 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

Clonal hematopoiesis with DNMT3A and PPM1D mutations impairs regeneration in autologous stem cell transplant recipients.

Stelmach P et al.

Haematologica, 2023

37381752 (PubMed )
Supplement: 2023_282992_STELMACH_SUPPL.pdf

Rare variant associations with plasma protein levels in the UK Biobank.

Dhindsa RS et al.

Nature, 2023

37794183 (PubMed )
Supplement: 41586_2023_6547_MOESM4_ESM.zip › 2022-09-14560C-s4 › 2022-09-14560C-Supp_table_20_-_CH_qualifying_variant_list.xlsx › CH_qualifying_variants

Golgi retention and oncogenic KIT signaling via PLCγ2-PKD2-PI4KIIIβ activation in gastrointestinal stromal tumor cells.

Obata Y et al.

Cell Reports, 2023

Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.

Yu Z et al.

The Journal of Clinical Investigation, 2023

37498674 (PubMed )
Supplement: jci-133-168597-s140.pdf

Siglec-9 is an inhibitory receptor on human mast cells in vitro.

Miralda I et al.

The Journal of Allergy and Clinical Immunology, 2023

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

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

Clonal hematopoiesis is associated with protection from Alzheimer's disease.

Bouzid H et al.

Nature Medicine, 2023

37322115 (PubMed )
Supplement: 41591_2023_2397_MOESM3_ESM.xlsx › Supplementary_Table_1

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

Gleason L et al.

International Journal of Dermatology and Venereology, 2023

Activity of Anlotinib in the Second-Line Therapy of Metastatic Gastrointestinal Stromal Tumors: A Prospective, Multicenter, In Vitro Study.

Zhou Y et al.

The Oncologist, 2023

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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."