Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.L576P
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KIT

NM_000222.3:p.L576P

Associated Papers

Atypical Deep Penetrating Melanocytic Tumors and Melanomas With Beta Catenin Mutations. A Case Series.

Mahurin H et al.

The American Journal of Dermatopathology, 2026

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

Genetic diversity in melanomagenesis: a comprehensive analysis of BRAF, NRAS, KIT and novel mutations across melanoma subtypes.

Göze ÖF et al.

Bmc Cancer, 2025

Oral Melanocytic Neoplasms: A Narrative Review.

Maldonado-Mendoza J

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 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

Conjunctival melanoma genomic analysis reveals intermediate tumor mutation burden and genomic overlap with cutaneous melanoma.

Dimitriou F et al.

Npj Precision Oncology, 2025

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

Kaveti A et al.

Cancers, 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

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

Exceptional therapeutic benefit of imatinib in cKIT-mutated mucosal melanoma followed by a KIT mutation loss.

Zillikens H et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2025

Primary malignant melanoma of the lung with C-KIT mutation and SRD5A3-KIT fusion.

Shen L et al.

Diagnostic Pathology, 2025

Response to Imatinib in Metastatic Esophageal Melanoma Harboring a KIT L576P (Exon 11) Mutation After Treatment Failure of Immune Checkpoint Inhibitors: A Case Report.

Matsui Y et al.

The Journal of Dermatology, 2025

Modelling Acral Melanoma in Admixed Brazilians Uncovers Genomic Drivers and Targetable Pathways.

Sousa-Squiavinato ACM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Ancestry and somatic profile predict acral melanoma origin and prognosis.

Basurto-Lozada P et al.

Medrxiv : the Preprint Server for Health Sciences, 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

Unveiling the molecular landscape and clinically relevant molecular heterogeneity of mucosal melanoma of the head and neck region.

Ricci C et al.

Histopathology, 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

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

High burden of variants of uncertain significance in early-onset colorectal cancer among indigenous African patients: a call for global research equity in cancer genetics.

Yildiz S et al.

Molecular Biology Reports, 2025

40627234 (PubMed )
Supplement: 11033_2025_10750_MOESM4_ESM.xlsx › Supplementary_Table_4-6-7

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

Effects of first‑line therapies in patients with locally advanced gastrointestinal stromal tumors with KIT and PDGFRα gene mutations: A single‑center study.

Su WC et al.

Oncology Letters, 2025

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

Li J et al.

The Oncologist, 2025

40377443 (PubMed )
Supplement: oyaf110_suppl_supplementary_tables_s1-s2.pdf

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

KRAS/NRAS variants and copy number alterations prognostically stratify patients with sinonasal melanoma.

Libera L et al.

Pathologica, 2025

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

Real-World Evidence of the Prevalence of Driver Mutations in Anorectal Melanoma.

Jutten E et al.

Molecular Diagnosis & Therapy, 2025

DNA Methylation Array Analysis Identifies Biological Subgroups of Cutaneous Melanoma and Reveals Extensive Differences with Benign Melanocytic Nevi.

Schwendinger S et al.

Diagnostics (basel, Switzerland), 2025

40075779 (PubMed )
Supplement: diagnostics-15-00531-s001.zip › Supplementary_Data.xlsx › Mutations

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

Patient-derived xenograft models of gastrointestinal stromal tumors provide a ready-to-use platform for translational research.

De Sutter L et al.

Disease Models & Mechanisms, 2025

Acral Melanoma: A Review of Its Pathogenesis, Progression, and Management.

Kim SH et al.

Biomolecules, 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

Exploring the Common Mutational Landscape in Cutaneous Melanoma and Pancreatic Cancer.

Broseghini E et al.

Pigment Cell & Melanoma Research, 2025

Recurrent gastrointestinal stromal tumor with c-KIT double exon mutations: A rare case report.

Zhu N et al.

Cytojournal, 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

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

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

Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.

Küçükosmanoglu A et al.

Molecular Oncology, 2024

38757376 (PubMed )
Supplement: MOL2-18-2407-s001.xlsx › 1B_Cases_composite_mutations

Melanoma genomics - will we go beyond BRAF in clinics?

Mirek J et al.

Journal of Cancer Research and Clinical Oncology, 2024

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

Melanoma Brain Metastases Patient-Derived Organoids: An In Vitro Platform for Drug Screening.

Abedellatif SE et al.

Pharmaceutics, 2024

The genetic evolution of acral melanoma.

Wang M et al.

Nature Communications, 2024

39034322 (PubMed )
Supplement: 41467_2024_50233_MOESM9_ESM.xlsx › Supplementary_Figure_2

Progressive hyperpigmentation and lentigines due to KIT variants improving with imatinib.

Liang L et al.

The British Journal of Dermatology, 2024

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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."