Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.S476I
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KIT

NM_000222.3:p.S476I

Associated Papers

Management of Mastocytosis and Mast Cell Activation in Children.

Carter MC et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2026

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

Jutten E et al.

Molecular Diagnosis & Therapy, 2025

Diffuse Cutaneous Mastocytosis: A Current Understanding of a Rare Disease.

Rydz A et al.

International Journal of Molecular Sciences, 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 › Suppl._Table_6

Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management.

Pardanani A

American Journal of Hematology, 2023

Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.

Cheng CK et al.

Communications Biology, 2023

37002311 (PubMed )
Supplement: 42003_2023_4732_MOESM5_ESM.xlsx › Supplementary_Data_2

KIT D816V Mast Cells Derived from Induced Pluripotent Stem Cells Recapitulate Systemic Mastocytosis Transcriptional Profile.

de Toledo MAS et al.

International Journal of Molecular Sciences, 2023

Genomics-Driven Precision Medicine in Pediatric Solid Tumors.

Suthapot P et al.

Cancers, 2023

Molecular and Functional Heterogeneity of Primary Pancreatic Neuroendocrine Tumors and Metastases.

Guo Y et al.

Neuroendocrinology, 2023

37232011 (PubMed )
Supplement: Supplementary_material-Suppl.7-s7.xls › Table_S6

Mast cell leukemia with novel BRAF variant and concomitant atypical KIT variant.

Chen T et al.

Cancer Genetics, 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

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

González-López O et al.

Cancers, 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

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

E3 ubiquitin ligase Atrogin-1 mediates adaptive resistance to KIT-targeted inhibition in gastrointestinal stromal tumor.

García-Valverde A et al.

Oncogene, 2021

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

Detection of the germline KIT S476I mutation in a kindred with familial mastocytosis associated with gastrointestinal stromal tumors.

Peters F et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2021

Criteria for the Regression of Pediatric Mastocytosis: A Long-Term Follow-Up.

Polivka L et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2021

Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis.

Nedoszytko B et al.

International Journal of Molecular Sciences, 2021

Recent Advances in the Molecular Biology of Systemic Mastocytosis: Implications for Diagnosis, Prognosis, and Therapy.

Martelli M et al.

International Journal of Molecular Sciences, 2020

Genotype and phenotype analysis of patients with pediatric cutaneous mastocytosis, especially wild-type KIT patients.

Arase N et al.

The Journal of Dermatology, 2020

Analysis of C-Kit Exon 9, Exon 11 and BRAFV600E Mutations Using Sangers Sequencing in Gastrointestinal Stromal Tumours.

Madhala D et al.

Cureus, 2020

Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Brown AL et al.

Plos Computational Biology, 2019

31034466 (PubMed )
Supplement: pcbi.1006981.s010.xlsx › final_benchmark

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

Klug LR et al.

Oncogene, 2019

30242244 (PubMed )
Supplement: NIHMS1505443-supplement-Supplemental_Tables.docx

Genomic aberrations in cell cycle genes predict progression of KIT-mutant gastrointestinal stromal tumors (GISTs).

Heinrich MC et al.

Clinical Sarcoma Research, 2019

MEK/CDK4,6 co-targeting is effective in a subset of NRAS, BRAF and 'wild type' melanomas.

Posch C et al.

Oncotarget, 2018

30405888 (PubMed )
Supplement: oncotarget-09-34990-s001.pdf

Transgenerational transmission of systemic mast cell activation disease-genetic and epigenetic features.

Molderings GJ

Translational Research : the Journal of Laboratory and Clinical Medicine, 2016

A scientific treatment approach for acute mast cell leukemia: using a strategy based on next-generation sequencing data.

Youk J et al.

Blood Research, 2016

Combined Inhibition of MEK and Plk1 Has Synergistic Antitumor Activity in NRAS Mutant Melanoma.

Posch C et al.

The Journal of Investigative Dermatology, 2015

26016894 (PubMed )
Supplement: NIHMS694121-supplement-01.pdf

Mastocytosis: a mutated KIT receptor induced myeloproliferative disorder.

Chatterjee A et al.

Oncotarget, 2015

Cystic gastrointestinal stromal tumors of the pancreas simulating cystoadenocarcinoma. Report of three cases and short review of the literature.

Ambrosio MR et al.

Histology and Histopathology, 2014

The MAPK pathway functions as a redundant survival signal that reinforces the PI3K cascade in c-Kit mutant melanoma.

Todd JR et al.

Oncogene, 2014

Gastrointestinal stromal tumors with KIT exon 9 mutations: Update on genotype-phenotype correlation and validation of a high-resolution melting assay for mutational testing.

Künstlinger H et al.

The American Journal of Surgical Pathology, 2013

Post-transcriptional dysregulation by miRNAs is implicated in the pathogenesis of gastrointestinal stromal tumor [GIST].

Kelly L et al.

Plos One, 2013

Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.

Haenisch B et al.

Immunology, 2012

Extracellular assembly and activation principles of oncogenic class III receptor tyrosine kinases.

Verstraete K et al.

Nature Reviews. Cancer, 2012

Tyrosine-kinase mutations in c-KIT and PDGFR-alpha genes of imatinib naïve adult patients with gastrointestinal stromal tumours (GISTs) of the stomach and small intestine: relation to tumour-biological risk-profile and long-term outcome.

Søreide K et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2012

KRAS and BRAF mutations predict primary resistance to imatinib in gastrointestinal stromal tumors.

Miranda C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012

A novel primary KIT exon 9 single nucleotide substitution c.1427G>T (p.Ser476Ile) in a gastrointestinal stromal tumor.

Grabellus F et al.

Virchows Archiv : an International Journal of Pathology, 2010

Epidemiology and molecular biology of gastrointestinal stromal tumors (GISTs): a population-based study in the South of Switzerland, 1999-2005.

Mazzola P et al.

Histology and Histopathology, 2008

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