Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.V532I
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KIT

NM_000222.3:p.V532I

Associated Papers

Computational prediction of human genetic variants in the mouse genome.

Dong K et al.

Nature Biotechnology, 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

Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.

Chow RD et al.

Blood Advances, 2025

39938015 (PubMed )
Supplement: BLOODA_ADV-2024-015149-mmc2.xlsx › S2

Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.

Chow RD et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39252918 (PubMed )
Supplement: media-1.xlsx › S1

The carcinogenic capacity of arsenic in normal epithelial breast cells and double-positive breast cancer cells.

Zimta AA et al.

Medicine and Pharmacy Reports, 2024

Stimulating T cell responses against patient-derived breast cancer cells with neoantigen peptide-loaded peripheral blood mononuclear cells.

Sueangoen N et al.

Cancer Immunology, Immunotherapy : Cii, 2024

38349410 (PubMed )
Supplement: 262_2024_3627_MOESM6_ESM.pdf

KITD816V mutation in blood for the diagnostic screening of systemic mastocytosis and mast cell activation syndromes.

Navarro-Navarro P et al.

Allergy, 2023

Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity.

Möhrmann L et al.

Nature Communications, 2022

35918329 (PubMed )
Supplement: 41467_2022_31866_MOESM7_ESM.xlsx › 4.1_germline_variants

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

Utility of Select Gene Mutation Detection in Tumors by the Idylla Rapid Multiplex PCR Platform in Comparison to Next-Generation Sequencing.

Nkosi D et al.

Genes, 2022

35627184 (PubMed )
Supplement: genes-13-00799-s001.zip › genes-1613678-supplementary.pdf

Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results.

Olkinuora A et al.

Cancers, 2020

32660107 (PubMed )
Supplement: cancers-12-01853-s001.zip › Supplementary_Files_olkinuora › Table_S2_olkinuora.xlsx › Table_S2

KIT and Melanoma: Biological Insights and Clinical Implications.

Pham DDM et al.

Yonsei Medical Journal, 2020

Primary tumor somatic mutations in the blood of women with ductal carcinoma in situ of the breast.

Di Cosimo S et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2020

Similarities and Differences between Clear Cell Tubulo-Papillary and Conventional Clear Cell Renal Cell Carcinoma: A Comparative Phenotypical and Mutational Analysis.

Giunchi F et al.

Diagnostics (basel, Switzerland), 2020

Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.

Woodhouse R et al.

Plos One, 2020

32976510 (PubMed )
Supplement: pone.0237802.s009.zip › Table_9_Accuracy_Short_Variant_Line_Data.xlsx › sheet_1

Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Manca A et al.

Journal of Translational Medicine, 2019

31455347 (PubMed )
Supplement: 12967_2019_2039_MOESM1_ESM.xlsx › Discovery_cohort_nsyn_variants

Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Surrey LF et al.

Genome Medicine, 2019

31133068 (PubMed )
Supplement: 13073_2019_644_MOESM3_ESM.xlsx › Table_S8

Panel-based next-generation sequencing identifies prognostic and actionable genes in childhood acute lymphoblastic leukemia and is suitable for clinical sequencing.

Ishida H et al.

Annals of Hematology, 2019

The prognostic effects of somatic mutations in ER-positive breast cancer.

Griffith OL et al.

Nature Communications, 2018

30181556 (PubMed )
Supplement: 41467_2018_5914_MOESM6_ESM.xlsx › Combined_nonsilent

Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Padovan-Merhar OM et al.

Plos Genetics, 2016

27997549 (PubMed )
Supplement: pgen.1006501.s002.xlsx › Sheet1

Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis.

Kaisaki PJ et al.

Plos One, 2016

Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

Wong SQ et al.

British Journal of Cancer, 2015

25742471 (PubMed )
Supplement: bjc201580x7.xls › Supp_Table_3

Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing.

Kirschner MM et al.

Plos One, 2015

Next-generation sequencing-based multigene mutational screening for acute myeloid leukemia using MiSeq: applicability for diagnostics and disease monitoring.

Luthra R et al.

Haematologica, 2014

Exploring the cause of drug resistance by the detrimental missense mutations in KIT receptor: computational approach.

Rajasekaran R et al.

Amino Acids, 2010

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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."