Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.D816H
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KIT

NM_000222.3:p.D816H

Associated Papers

KIT Mutant/Core binding factor-negative acute myeloid leukemia might be a complex subgroup with dismal prognosis: a single-center retrospective analysis.

Jiang R et al.

Annals of Hematology, 2026

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

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

Mast Cell Leukemia With Myelodysplastic Syndrome With a KIT D816V Mutation and a GATA2 Germline Mutation in a Child: Case Report and Literature Review.

Zheng F et al.

Pediatric Blood & Cancer, 2025

Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers.

Abel HJ et al.

The Journal of Molecular Diagnostics : Jmd, 2025

41016628 (PubMed )
Supplement: mmc16.xlsx › Sheet1

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

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

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Phase II Trial of Ponatinib in Patients with Metastatic Gastrointestinal Stromal Tumor following Failure or Intolerance of Prior Therapy with Imatinib (POETIG Trial).

Falkenhorst J et al.

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

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

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

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

High burden of variants of uncertain significance in early-onset colorectal cancer among indigenous African patients: a call for global research equity in cancer genetics.

Yildiz S et al.

Molecular Biology Reports, 2025

40627234 (PubMed )
Supplement: 11033_2025_10750_MOESM4_ESM.xlsx › Supplementary_Table_4-6-7

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

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

Sensitive and reliable detection of KIT p.D816V mutation in decalcified archival bone marrow trephines.

Odensass M et al.

Virchows Archiv : an International Journal of Pathology, 2025

The Prospective Use of Avapritinib in Relapsed/Refractory (R/R) RUNX1-RUNX1T1-Positive AML Patients With KIT Mutation.

Han SY et al.

Clinical Lymphoma, Myeloma & Leukemia, 2025

From Sanger to Oxford Nanopore MinION Technology: The Impact of Third-Generation Sequencing on Genetic Hematological Diagnosis.

Larráyoz MJ et al.

Cancers, 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

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

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

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

Real-World Evidence of the Prevalence of Driver Mutations in Anorectal Melanoma.

Jutten E et al.

Molecular Diagnosis & Therapy, 2025

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

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

BYS10, a novel selective RET inhibitor, exhibits potent antitumor activity in preclinical models.

Qin F et al.

Frontiers in Pharmacology, 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

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

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

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.12

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

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

Tracking Response and Resistance in Acute Myeloid Leukemia through Single-Cell DNA Sequencing Helps Uncover New Therapeutic Targets.

Bruno S et al.

International Journal of Molecular Sciences, 2024

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

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
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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."