Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.D820A
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KIT

NM_000222.3:p.D820A

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

MITF regulates autophagy and extracellular vesicle cargo in gastrointestinal stromal tumors.

Proaño-Pérez E et al.

Molecular Biomedicine, 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

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

Clinicopathological characteristics of progressive gastrointestinal stromal tumors and heterogeneity analyses of secondary mutations.

Li J et al.

The Oncologist, 2025

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

Genomic and transcriptomic landscape of human gastrointestinal stromal tumors.

Xie F et al.

Nature Communications, 2024

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

He C et al.

Current Treatment Options in Oncology, 2024

Overcoming Secondary Mutations of Type II Kinase Inhibitors.

Wang X et al.

Journal of Medicinal Chemistry, 2024

KIT mutations and expression: current knowledge and new insights for overcoming IM resistance in GIST.

Zhou S et al.

Cell Communication and Signaling : Ccs, 2024

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

Obata Y et al.

Cell Reports, 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

Molecular Advances in the Treatment of Advanced Gastrointestinal Stromal Tumor.

Venkataraman V et al.

The Oncologist, 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

MOZ and Menin-MLL Complexes Are Complementary Regulators of Chromatin Association and Transcriptional Output in Gastrointestinal Stromal Tumor.

Hemming ML et al.

Cancer Discovery, 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

Molecular Portrait of GISTs Associated With Clinicopathological Features: A Retrospective Study With Molecular Analysis by a Custom 9-Gene Targeted Next-Generation Sequencing Panel.

Qian H et al.

Frontiers in Genetics, 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

Association of Combination of Conformation-Specific KIT Inhibitors With Clinical Benefit in Patients With Refractory Gastrointestinal Stromal Tumors: A Phase 1b/2a Nonrandomized Clinical Trial.

Wagner AJ et al.

Jama Oncology, 2021

Nationwide evaluation of mutation-tailored treatment of gastrointestinal stromal tumors in daily clinical practice.

Steeghs EMP et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2021

33909171 (PubMed )
Supplement: 10120_2021_1190_MOESM2_ESM.xlsx › Sup._Table_2

The impact of the combination of KIT mutation and minimal residual disease on outcome in t(8;21) acute myeloid leukemia.

Qin YZ et al.

Blood Cancer Journal, 2021

Mutational spectrum and precision oncology for biliary tract carcinoma.

Lin J et al.

Theranostics, 2021

33754015 (PubMed )
Supplement: thnov11p4585s1.pdf

The V654A second-site KIT mutation increases tumor oncogenesis and STAT activation in a mouse model of gastrointestinal stromal tumor.

Zhang JQ et al.

Oncogene, 2020

Spectrum of activity of dasatinib against mutant KIT kinases associated with drug-sensitive and drug-resistant gastrointestinal stromal tumors.

Zeng C et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2020

Phase and context shape the function of composite oncogenic mutations.

Gorelick AN et al.

Nature, 2020

32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations

Discovery and pharmacological characterization of AZD3229, a potent KIT/PDGFRα inhibitor for treatment of gastrointestinal stromal tumors.

Banks E et al.

Science Translational Medicine, 2020

Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Hamid AB et al.

Cancers, 2020

32283832 (PubMed )
Supplement: cancers-12-00927-s001.pdf

Loss of PI3 kinase association improves the sensitivity of secondary mutation of KIT to Imatinib.

Zhu G et al.

Cell & Bioscience, 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

The rs17084733 variant in the KIT 3' UTR disrupts a miR-221/222 binding site in gastrointestinal stromal tumour: a sponge-like mechanism conferring disease susceptibility.

Ravegnini G et al.

Epigenetics, 2019

Enhancer Domains in Gastrointestinal Stromal Tumor Regulate KIT Expression and Are Targetable by BET Bromodomain Inhibition.

Hemming ML et al.

Cancer Research, 2019

Complementary activity of tyrosine kinase inhibitors against secondary kit mutations in imatinib-resistant gastrointestinal stromal tumours.

Serrano C et al.

British Journal of Cancer, 2019

LMTK3 is essential for oncogenic KIT expression in KIT-mutant GIST and melanoma.

Klug LR et al.

Oncogene, 2019

Computational analysis reveals histotype-dependent molecular profile and actionable mutation effects across cancers.

Heim D et al.

Genome Medicine, 2018

30442178 (PubMed )
Supplement: 13073_2018_591_MOESM4_ESM.xlsx › Table_S2

Hydroxysteroid 11-Beta Dehydrogenase 1 Overexpression with Copy-Number Gain and Missense Mutations in Primary Gastrointestinal Stromal Tumors.

Li CF et al.

Journal of Clinical Medicine, 2018

BPR1J373, a novel multitargeted kinase inhibitor, effectively suppresses the growth of gastrointestinal stromal tumor.

Tsai HJ et al.

Cancer Science, 2018

Dual Targeting of Insulin Receptor and KIT in Imatinib-Resistant Gastrointestinal Stromal Tumors.

Chen W et al.

Cancer Research, 2017

Genetic progression in gastrointestinal stromal tumors: mechanisms and molecular interventions.

Li K et al.

Oncotarget, 2017

Sustained Mutant KIT Activation in the Golgi Complex Is Mediated by PKC-θ in Gastrointestinal Stromal Tumors.

Kim WK et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression.

Tang CM et al.

Oncotarget, 2016

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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."