Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.D820Y
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KIT

NM_000222.3:p.D820Y

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

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

Computational prediction of human genetic variants in the mouse genome.

Dong K et al.

Nature Biotechnology, 2025

KIT-Mutant Melanoma: Understanding the Pathway to Personalized Therapy.

Kaveti A et al.

Cancers, 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

Ancestry and somatic profile predict acral melanoma origin and prognosis.

Basurto-Lozada P et al.

Medrxiv : the Preprint Server for Health Sciences, 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

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

40018846 (PubMed )
Supplement: mct-24-0699_supplementary_table_s3_supps3.pdf

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

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

Li J et al.

The Oncologist, 2025

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

Gene Mutations in Gastrointestinal Stromal Tumors: Advances in Treatment and Mechanism Research.

Cao L et al.

Global Medical Genetics, 2024

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.20

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

Different efficacy of tyrosine kinase inhibitors by KIT and PGFRA mutations identified in circulating tumor DNA for the treatment of refractory gastrointestinal stromal tumors.

Hashimoto T et al.

Bjc Reports, 2024

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

Huang X et al.

Histopathology, 2024

The immune response-related genomic alterations in patients with malignant melanoma.

Li L et al.

Medicine, 2024

38669390 (PubMed )
Supplement: medi-103-e37966-s001.xlsx › Sheet1

Imatinib in c-KIT-mutated metastatic solid tumors: A multicenter trial of Korean Cancer Study Group (UN18-05 Trial).

Kim HR et al.

Journal of Cancer Research and Therapeutics, 2024

Intracranial Germinoma in Two Caucasian American Siblings With Autism Spectrum Disorder.

Toll SA et al.

Journal of Pediatric Hematology/oncology, 2024

Melanocytic Neoplasm With KIT and APC Mutations: A New Subtype of Melanocytoma?

Donati M et al.

The American Journal of Dermatopathology, 2024

Diagnosis, Treatment, and Prognosis of Patients with Primary Familial Gastrointestinal Stromal Tumor: A Case Report and Literature Review.

Yan M et al.

The Oncologist, 2023

37311038 (PubMed )
Supplement: oyad168_suppl_supplementary_table_s1.docx

Differences in the Clinical and Molecular Profiles of Subungual Melanoma and Acral Melanoma in Asian Patients.

Ahn SY et al.

Cancers, 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

Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.

Fitzgerald S et al.

Molecular Diagnosis & Therapy, 2023

37099071 (PubMed )
Supplement: 40291_2023_651_MOESM1_ESM.xlsx › Suppl._Table_2

Distinct genomic features in a retrospective cohort of mucosal, acral, and vulvovaginal melanomas.

Shi K et al.

Journal of the American Academy of Dermatology, 2023

Emerging Targeted Therapeutic Strategies to Overcome Imatinib Resistance of Gastrointestinal Stromal Tumors.

Masucci MT et al.

International Journal of Molecular Sciences, 2023

Development of Highly Sensitive Digital Droplet PCR for Detection of cKIT Mutations in Circulating Free DNA That Mediate Resistance to TKI Treatment for Gastrointestinal Stromal Tumor (GIST).

Rassner M et al.

International Journal of Molecular Sciences, 2023

Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing.

Park HY et al.

Biomedicines, 2023

36979829 (PubMed )
Supplement: biomedicines-11-00851-s001.zip › biomedicines-2237878-supplementary.pdf

Somatic mutation detection and KRAS amplification in testicular germ cell tumors.

Cabral ERM et al.

Frontiers in Oncology, 2023

Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Cheng WY et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36442087 (PubMed )
Supplement: pnas.2211429119.sd02.xlsx › snv_indel

Clinical and genomic correlates of imatinib response in melanomas with KIT alterations.

Jung S et al.

British Journal of Cancer, 2022

A literature review and database of how the primary KIT/PDGFRA variant of a gastrointestinal stromal tumour predicts for sensitivity to imatinib.

Wong NACS et al.

Cancer Genetics, 2022

Gastrointestinal stromal tumors caused by novel germline variants in SDHB and KIT: a report of two cases and literature review.

Rasmussen S et al.

Clinical Journal of Gastroenterology, 2022

Integrative Genomic Profiling Uncovers Therapeutic Targets of Acral Melanoma in Asian Populations.

Shi Q et al.

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

35294533 (PubMed )
Supplement: ccr-21-3344_supplementary_data_suppsd1.xlsx › Table_S6

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

Systematic review and meta-analysis of genomic alterations in acral melanoma.

Broit N et al.

Pigment Cell & Melanoma Research, 2022

35229492 (PubMed )
Supplement: PCMR-35-369-s002.pdf

Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

Chevrier S et al.

International Journal of Molecular Medicine, 2022

35244186 (PubMed )
Supplement: Supplementary_Data2.xlsx › Feuil1

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

BRAF, C-KIT, and NRAS mutations correlated with different clinicopathological features: an analysis of 691 melanoma patients from a single center.

Ren M et al.

Annals of Translational Medicine, 2022

Distribution and clinical role of KIT gene mutations in melanoma according to subtype: a study of 492 Spanish patients.

Millán-Esteban D et al.

European Journal of Dermatology : Ejd, 2021

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
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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."