Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.D816A
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KIT

NM_000222.3:p.D816A

Associated Papers

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

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

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

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

40729398 (PubMed )
Supplement: ccr-25-0222_supplementary_table_s4_suppts4.xlsx › Tabelle1

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

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

Huang X et al.

Histopathology, 2024

Establishment and validation of a gene mutation-based risk model for predicting prognosis and therapy response in acute myeloid leukemia.

Liu Y et al.

Heliyon, 2024

38831838 (PubMed )
Supplement: mmc3.xlsx › Sheet1

KIT exon 17 mutations are predictive of inferior outcome in pediatric acute myeloid leukemia with RUNX1::RUNX1T1.

Srinivasan S et al.

Pediatric Blood & Cancer, 2024

Avapritinib treatment of aggressive systemic mastocytosis with a novel KIT exon 17 mutation.

Sandow L et al.

Leukemia Research Reports, 2024

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

KITD816V mutation in blood for the diagnostic screening of systemic mastocytosis and mast cell activation syndromes.

Navarro-Navarro P et al.

Allergy, 2023

New Insights into the Pathogenesis of Mastocytosis: Emerging Concepts in Diagnosis and Therapy.

Valent P et al.

Annual Review of Pathology, 2023

Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

González-López O et al.

Cancers, 2022

Broad spectrum of regorafenib activity on mutant KIT and absence of clonal selection in gastrointestinal stromal tumor (GIST): correlative analysis from the GRID trial.

Jeffers M et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2022

35050442 (PubMed )
Supplement: 10120_2021_1274_MOESM1_ESM.docx

Phase II Study of Ponatinib in Advanced Gastrointestinal Stromal Tumors: Efficacy, Safety, and Impact of Liquid Biopsy and Other Biomarkers.

George S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

35091442 (PubMed )
Supplement: ccr-21-2037_supplementary_data_supp0.pdf

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1

Ovarian germ cell tumor/mastocytosis with KIT mutation: A unique clinicopathological entity.

Xiao P et al.

Genes, Chromosomes & Cancer, 2022

Monitoring Circulating Tumor DNA During Surgical Treatment in Patients with Gastrointestinal Stromal Tumors.

Johansson G et al.

Molecular Cancer Therapeutics, 2021

34552011 (PubMed )
Supplement: 15357163mct210403-sup-264922_2_supp_7338541_qy3h8n.xlsx › Supplementary_Table_S5

Pathogenic and diagnostic relevance of KIT in primary mast cell activation disorders.

Muñoz-González JI et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2021

Molecular Pathology and Targeted Therapies for Personalized Management of Central Nervous System Germinoma.

Ilcus C et al.

Journal of Personalized Medicine, 2021

Sequence Neighborhoods Enable Reliable Prediction of Pathogenic Mutations in Cancer Genomes.

Banerjee S et al.

Cancers, 2021

34068918 (PubMed )
Supplement: cancers-13-02366-s001.zip › Supplementary_Tables_1202501.xlsx › Table_S7

Molecular Characterization of Ovarian Yolk Sac Tumor (OYST).

Hodroj K et al.

Cancers, 2021

Mutational spectrum and precision oncology for biliary tract carcinoma.

Lin J et al.

Theranostics, 2021

33754015 (PubMed )
Supplement: thnov11p4585s1.pdf

An aggressive systemic mastocytosis preceded by ovarian dysgerminoma.

Tsutsumi M et al.

Bmc Cancer, 2020

Genomic landscape of platinum resistant and sensitive testicular cancers.

Loveday C et al.

Nature Communications, 2020

32366847 (PubMed )
Supplement: 41467_2020_15768_MOESM7_ESM.xlsx › Supplementary_Data_4

Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Hamid AB et al.

Cancers, 2020

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Resistance-no-BCR-ABL1

KIT-Dependent and KIT-Independent Genomic Heterogeneity of Resistance in Gastrointestinal Stromal Tumors - TORC1/2 Inhibition as Salvage Strategy.

Mühlenberg T et al.

Molecular Cancer Therapeutics, 2019

D816 mutation of the KIT gene in core binding factor acute myeloid leukemia is associated with poorer prognosis than other KIT gene mutations.

Yui S et al.

Annals of Hematology, 2017

Recurrent neomorphic mutations of MTOR in central nervous system and testicular germ cell tumors may be targeted for therapy.

Ichimura K et al.

Acta Neuropathologica, 2016

Shared clonal cytogenetic abnormalities in aberrant mast cells and leukemic myeloid blasts detected by single nucleotide polymorphism microarray-based whole-genome scanning.

Frederiksen JK et al.

Genes, Chromosomes & Cancer, 2016

A historical overview of protein kinases and their targeted small molecule inhibitors.

Roskoski R

Pharmacological Research, 2015

Clinical Grade "SNaPshot" Genetic Mutation Profiling in Multiple Myeloma.

O'Donnell E et al.

Ebiomedicine, 2015

26137536 (PubMed )
Supplement: mmc1.pdf

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Systemic mastocytosis associated with t(8;21) acute myeloid leukemia in a child: detection of the D816A mutation of KIT.

Yabe M et al.

Pediatric Blood & Cancer, 2012

Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Pommier SJ et al.

Annals of Surgical Oncology, 2012

21748247 (PubMed )
Supplement: 10434_2011_1892_MOESM2_ESM.pdf

Gastrointestinal stromal tumours: origin and molecular oncology.

Corless CL et al.

Nature Reviews. Cancer, 2011

Rapid targeted mutational analysis of human tumours: a clinical platform to guide personalized cancer medicine.

Dias-Santagata D et al.

Embo Molecular Medicine, 2010

20432502 (PubMed )
Supplement: emmm0002-0146-SD1.xls › MUTATIONS

Mechanisms of sunitinib resistance in gastrointestinal stromal tumors harboring KITAY502-3ins mutation: an in vitro mutagenesis screen for drug resistance.

Guo T et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2009

Therapy-related acute myeloid leukemia with t(8;21) (q22;q22) shares many features with de novo acute myeloid leukemia with t(8;21)(q22;q22) but does not have a favorable outcome.

Gustafson SA et al.

American Journal of Clinical Pathology, 2009

Disruption of the EGFR E884-R958 ion pair conserved in the human kinome differentially alters signaling and inhibitor sensitivity.

Tang Z et al.

Oncogene, 2009

Mutations of c-kit gene in bilateral testicular germ cell tumours in Japan.

Sakuma Y et al.

Cancer Letters, 2008

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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."