Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.D816Y
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KIT

NM_000222.3:p.D816Y

Associated Papers

Gastrointestinal Stromal Tumors: Molecular Mechanisms of Drug Resistance and Advances in Therapeutic Strategies.

Jingnuo D et al.

Journal of Gastroenterology and Hepatology, 2026

Clinical relevance of mosaic variants detected by exome sequencing.

Ghosh R et al.

The Journal of Allergy and Clinical Immunology, 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

Management of Mastocytosis and Mast Cell Activation in Children.

Carter MC et al.

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

Germ cell immunoprofile and KIT exon 17 mutation guide rectification of seminoma misclassified as epithelioid gastrointestinal stromal tumor: A case report.

Zhang X et al.

Biomedical Reports, 2026

Genetic diversity in melanomagenesis: a comprehensive analysis of BRAF, NRAS, KIT and novel mutations across melanoma subtypes.

Göze ÖF et al.

Bmc Cancer, 2025

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

Schornack BJ et al.

The Journal of Allergy and Clinical Immunology, 2025

Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.

Voss RK et al.

Leukemia, 2025

41057686 (PubMed )
Supplement: 41375_2025_2774_MOESM2_ESM.xlsx › S3_-_SNVs__small_INDELS

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

KIT amplitude-based multiplex droplet digital polymerase chain reaction outperforms direct sequencing for sensitive KIT D816 genotyping in core binding factor acute myeloid leukemia.

Mizuta S et al.

Laboratory Medicine, 2025

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

Bruneau J et al.

Blood Cancer Journal, 2025

Resolving intra-tumor heterogeneity and clonal evolution of core-binding factor acute myeloid leukemia patients with single-cell resolution.

Hablesreiter R et al.

Experimental Hematology & Oncology, 2025

41152985 (PubMed )
Supplement: 40164_2025_718_MOESM1_ESM.docx

Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.

Umeda M et al.

Blood, 2025

40700635 (PubMed )
Supplement: BLOOD_BLD-2025-028993-mmc2.xlsx › Supplementary_Table_6

Landscape and clinicopathologic features of RAS pathway mutations in chronic myelomonocytic leukemia.

Montalban-Bravo G et al.

Blood Advances, 2025

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

Sotiropoulou CD et al.

European Journal of Haematology, 2025

Next Generation Sequencing of Genes With Epigenetic Alterations in Mastocytosis.

Górska A et al.

Clinical and Translational Allergy, 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

A structurally informed human protein-protein interactome reveals proteome-wide perturbations caused by disease mutations.

Xiong D et al.

Nature Biotechnology, 2025

Myeloid sarcoma shows a high frequency of mutations activating the MAPK/ERK pathway and association with clonal hematopoiesis.

Nann D et al.

The Journal of Pathology. Clinical Research, 2025

40906433 (PubMed )
Supplement: CJP2-11-e70044-s001.pdf

Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type.

Yang X et al.

Human Genomics, 2025

40877983 (PubMed )
Supplement: 40246_2025_792_MOESM2_ESM.xlsx › Table_S4

Erythroblastic Sarcoma in Adults and Children: Different Pathways to the Same Destination.

Fitzpatrick MJ et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Mast Cell Leukemia: Comprehensive Review of Literature With Current Insights and Updates on Management.

Idamakanti M et al.

Journal of Hematology, 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

A comprehensive database for identifying and interpreting ctDNA driver genes and variants in cancer.

Wang Y et al.

Scientific Data, 2025

40670358 (PubMed )
Supplement: 41597_2025_5550_MOESM1_ESM.xls › Table_S5

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

Avapritinib monotherapy induces rapid and deep remission of heavily treated, KIT D816H-mutated t(8;21) acute myeloid leukemia, a case report and literature review.

Getz TM et al.

Annals of Hematology, 2025

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

Impact of KIT mutation on efficacy of venetoclax and hypomethylating agents in newly diagnosed acute myeloid leukemia.

Shu W et al.

European Journal of Medical Research, 2025

Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.

Chow RD et al.

Blood Advances, 2025

39938015 (PubMed )
Supplement: BLOODA_ADV-2024-015149-mmc2.xlsx › S2

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

Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.

Umeda M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974131 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_6

Dasatinib maintenance following allogeneic transplantation in acute myeloid leukemia with KIT mutation.

Ngo D et al.

Bone Marrow Transplantation, 2025

Mast Cell Sarcoma of the Small Intestine Diagnosed by Ascitic Fluid Cytology: A Case Report with Molecular and Immunophenotypic Correlation.

Mizoguchi K et al.

Acta Cytologica, 2025

The importance of targeted next-generation sequencing based genomic profiling in the diagnosis of childhood acute myeloid leukemia: a single center experience.

Kaçar D et al.

The Turkish Journal of Pediatrics, 2024

Longitudinal ultra-sensitive mutation burden sequencing for precise minimal residual disease assessment in AML.

Wu Y et al.

Nature Communications, 2024

39543210 (PubMed )
Supplement: 41467_2024_54254_MOESM4_ESM.xlsx › No.20

MET amplification correlates with poor prognosis and immunotherapy response as a subtype of melanoma: a multicenter retrospective study.

Cai X et al.

Bmc Cancer, 2024

39528978 (PubMed )
Supplement: 12885_2024_13163_MOESM1_ESM.xlsx › SNVs

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

Cilloni D et al.

International Journal of Molecular Sciences, 2024

Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.

Chow RD et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39252918 (PubMed )
Supplement: media-1.xlsx › S1

Pediatric acute myeloid leukemia with t(8;21) and KIT mutation treatment with avapritinib post-stem cell transplantation: a report of four cases.

Wang Q et al.

Annals of Hematology, 2024

Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.

Halik A et al.

Journal of Hematology & Oncology, 2024

39160538 (PubMed )
Supplement: 13045_2024_1590_MOESM1_ESM.xlsx › Suppl._Dataset_4_TS_SNV

[Analysis of the therapeutic effect of avatinib bridged allogeneic hematopoietic stem cell transplantation on 7 cases of recurrent/refractory RUNX1-RUNX1T1 positive acute myeloid leukemia with KIT mutations].

Han SY et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2024

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

Aldama LND et al.

Oncotarget, 2024

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

Huang X et al.

Histopathology, 2024

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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."