Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.V654A
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KIT

NM_000222.3:p.V654A

Associated Papers

Dideoxy Sequencing Enhances Detection of KIT Mutations in Gastrointestinal Stromal Tumors Initially Evaluated by Next-Generation Sequencing Hotspot Panels.

Robinson L et al.

The Journal of Molecular Diagnostics : Jmd, 2026

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

Jingnuo D et al.

Journal of Gastroenterology and Hepatology, 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

Introducing iCatalog as a clinical decision support tool for collaborative pediatric precision oncology studies.

Kang W et al.

Communications Medicine, 2026

41571967 (PubMed )
Supplement: 43856_2025_1351_MOESM5_ESM.pdf

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

Computational prediction of human genetic variants in the mouse genome.

Dong K et al.

Nature Biotechnology, 2025

Comprehensive Molecular Screening by Next Generation Sequencing of Gastrointestinal Stromal Tumors (GISTs): In Silico Analysis and Classification of Rare KIT Exon 11 Mutations.

Rodriquenz MG et al.

Cancer Medicine, 2025

ctDNA as a Molecular Biomarker in the Phase II Trial of Imatinib plus Binimetinib in Patients with Advanced Gastrointestinal Stromal Tumor.

Kelly CM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

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

Golgi retention of KIT in gastrointestinal stromal tumour cells is phospholipase D activity-dependent.

Obata Y et al.

Scientific Reports, 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

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

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

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Genomic landscape and molecularly informed therapy in thymic carcinoma and other advanced thymic epithelial tumors.

Möhrmann L et al.

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

Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.

Ikoma Y et al.

Leukemia, 2025

40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5

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

Li J et al.

The Oncologist, 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

Selective internal radiation with Y-90 resin microspheres (SIRT) for liver metastases of gastro-intestinal stromal tumors (GIST) resistant to tyrosine kinase inhibitor (TKI) therapy.

Hohenberger P et al.

British Journal of Cancer, 2025

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

Novel structural variants that impact cell cycle genes are elucidated in metastatic gastrointestinal stromal tumors.

Delgado-de la Mora J et al.

Pathology, Research and Practice, 2025

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

A case report of advanced small intestinal stromal tumor with KIT gene mutation and BRCA2 deletion after multi-line treatments.

Cui S et al.

Frontiers in Oncology, 2025

Case Report: Dramatic response to entritinib in a patient with gastrointestinal stromal tumor positive for NTRK3 fusion.

Dong G et al.

Frontiers in Oncology, 2025

Efficacy of Wee1 G2 Checkpoint Kinase and Mouse Double Minute 2 Homolog Inhibitors in Gastrointestinal Stromal Tumors Determined by p53 Status.

Chen CP et al.

Oncology Research, 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

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

Genomic and transcriptomic landscape of human gastrointestinal stromal tumors.

Xie F et al.

Nature Communications, 2024

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

Genetic Characteristics of Cutaneous, Acral, and Mucosal Melanoma in Japan.

Hida T et al.

Cancer Medicine, 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

Four and a half LIM domains 2 (FHL2) attenuates tumorigenesis of gastrointestinal stromal tumors (GISTs) by negatively regulating KIT signaling.

Zhang S et al.

Molecular Carcinogenesis, 2024

Overcoming Secondary Mutations of Type II Kinase Inhibitors.

Wang X et al.

Journal of Medicinal Chemistry, 2024

RAF1 facilitates KIT signaling and serves as a potential treatment target for gastrointestinal stromal tumor.

Zhang L et al.

Oncogene, 2024

An ALK2 inhibitor, BLU-782, prevents heterotopic ossification in a mouse model of fibrodysplasia ossificans progressiva.

Davis AJ et al.

Science Translational Medicine, 2024

38809966 (PubMed )
Supplement: scitranslmed.abp8334_data_file_s1.zip › abp8334_data_file_S1.xlsx › Fig_4a

Discovery and Preclinical Characterization of BIIB129, a Covalent, Selective, and Brain-Penetrant BTK Inhibitor for the Treatment of Multiple Sclerosis.

Himmelbauer MK et al.

Journal of Medicinal Chemistry, 2024

38712838 (PubMed )
Supplement: jm4c00220_si_003.xlsx › comnpound_25
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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."