Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.D816V
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KIT

NM_000222.3:p.D816V

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

Soluble FcεRI is increased in advanced-mastocytosis and acts as negative-regulator of mast cell-expansion and activation.

Stefanzl G et al.

The Journal of Allergy and Clinical Immunology, 2026

The oncogenome of the domestic cat.

Francis BA et al.

Science (new York, N.y.), 2026

Clathrin-associated SCYL2 contributes to the activation of PI3K/AKT signaling and tumorigenesis through PTEN phosphorylation in adult T-cell leukemia/lymphoma.

Ichikawa T et al.

Cancer Gene Therapy, 2026

Prediction of Mutations and Outcome in Gastrointestinal Stromal Tumors with Deep Learning: A Multicenter, Multinational Study.

Bonetti A et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41674582 (PubMed )
Supplement: NIHPP2026.02.02.26345350V1-supplement-1.pdf

Association between Ehlers-Danlos syndrome and mast cell activation syndrome: Is there scientific evidence?

Cuenca-Gómez JA et al.

Revista Clinica Espanola, 2026

A Single-Nucleotide Polymorphism as a Surrogate Marker for Hereditary Alpha-Tryptasemia: Are We There Yet?

Chantran Y

Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology, 2026

Whole Genome Sequencing Informed Patient Personalized Measurable Residual Disease Assays for Acute Myeloid Leukemia.

Ravindra N et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

Ultra-Sensitive Mutation Detection Technology in Myeloid Neoplasms: New Tools for Patient Monitoring.

Ferrando A et al.

Journal of Clinical Medicine, 2026

Adult-onset cutaneous mastocytosis presenting as vulvar papules.

Braun N et al.

American Journal of Obstetrics and Gynecology, 2026

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

Insights Into Hereditary Alpha-Tryptasemia From a Genome-Wide Association Study in Hymenoptera Venom Anaphylaxis.

Blanco-Ramos T et al.

Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology, 2026

Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms.

Meyer R et al.

Blood Cancer Journal, 2026

41491914 (PubMed )
Supplement: 41408_2025_1433_MOESM1_ESM.docx

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

Aggressive Systemic Mastocytosis Related to Germline p.D816V KIT Mutation.

Kiwit A et al.

Pediatric Blood & Cancer, 2026

KIT-Targeting Drugs in the Management of Nonadvanced and Advanced Systemic Mastocytosis.

Reiter A et al.

The Journal of Allergy and Clinical Immunology. in Practice, 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

Denosumab as a Potential Disease-Modifying Treatment in Indolent Systemic Mastocytosis-Related Osteoporosis.

Abbas M et al.

Jcem Case Reports, 2026

Epidemiological survey of potential familial myelodysplastic syndromes/acute myeloid leukemia in Hawaii.

Takaoka K et al.

International Journal of Hematology, 2026

Clinicopathological features of PDGFRA D842Y-mutant gastrointestinal stromal tumors: insights from four cases.

Kanda T et al.

International Cancer Conference Journal, 2026

A Review of the Pathological and Molecular Diagnosis of Primary Myelofibrosis.

Shao R et al.

Cancers, 2025

Computational prediction of human genetic variants in the mouse genome.

Dong K et al.

Nature Biotechnology, 2025

Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.

Lai A et al.

Neoplasia (new York, N.y.), 2025

41411742 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Ultrasensitive Detection of Rare Mutations via Amplifying-Cleaving-Enriching in Acute Myeloid Leukemia.

Zhuang X et al.

Biomedicines, 2025

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

Guo C et al.

Nature Communications, 2025

Distinct clinical, laboratory, molecular, and pathologic features of systemic mastocytosis involving the gastrointestinal tract.

Chiu A et al.

American Journal of Clinical Pathology, 2025

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

Schornack BJ et al.

The Journal of Allergy and Clinical Immunology, 2025

Idiopathic Anaphylaxis.

Ben-Shoshan M et al.

The Journal of Allergy and Clinical Immunology. in Practice, 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: mmc14.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

Genodermatosis among the southwestern Saudi population: The pattern and the need for a premarital genetic screening protocol.

Alfahaad HA

Saudi Medical Journal, 2025

DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.

Taskiran I et al.

World Journal of Gastroenterology, 2025

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

Diagnostic Challenges in a Young Man with a Suspected Mast Cell Disorder, Dysplastic Bone Marrow Morphology, and a ZRSR2 Mutation.

Dondolin R et al.

Hematology Reports, 2025

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

Diagnosis and management of mast cell activation syndrome (MCAS) in Canada: a practical approach.

Lee E et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2025

[Treatment with interferon α-1b, interleukin-2, and thalidomide for persistent RUNX1::RUNX1T1 in a patient with KIT-mutated acute myeloid leukemia after allogeneic hematopoietic stem cell transplantation: a case report and literature review].

Mi RH et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2025

Pathway-Specific Therapeutic Modulation of Melanoma: Small-Molecule Inhibition of BRAF-MEK and KIT Signaling in Contemporary Precision Oncology with a Special Focus on Vemurafenib, Trametinib, and Imatinib.

Kawczak P et al.

Journal of Clinical Medicine, 2025

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

Bruneau J et al.

Blood Cancer Journal, 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

The number of vertebral fractures in indolent systemic mastocytosis is influenced by presence of the KIT-mutation.

Wilke C et al.

Bone, 2025

Kit structural mutations associated with the porcine dominant white phenotype impair hematopoiesis in mice.

Zhang C et al.

Febs Letters, 2025

Protein Kinase C Family: Structures, Biological Functions, Diseases, and Pharmaceutical Interventions.

Li Y et al.

Medcomm, 2025

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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."