Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.N822I
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KIT

NM_000222.3:p.N822I

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

Novel KIT mutation, D816_N819delinsll, in a patient with systemic mastocytosis: a case report.

Juratli HA et al.

Virchows Archiv : an International Journal of Pathology, 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

Avapritinib monotherapy induces rapid and deep remission of heavily treated, KIT D816H-mutated t(8;21) acute myeloid leukemia, a case report and literature review.

Getz TM et al.

Annals of Hematology, 2025

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

Li J et al.

The Oncologist, 2025

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

Jutten E et al.

Molecular Diagnosis & Therapy, 2025

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

Therapeutic advances of targeting receptor tyrosine kinases in cancer.

Tomuleasa C et al.

Signal Transduction and Targeted Therapy, 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 › Supp._Table_5

Novel Molecular Therapies and Genetic Landscape in Selected Rare Diseases with Hematologic Manifestations: A Review of the Literature.

Ręka G et al.

Cells, 2023

c-Kit Receptors as a Therapeutic Target in Cancer: Current Insights.

Abdellateif MS et al.

Oncotargets and Therapy, 2023

Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Boström M et al.

Nature Communications, 2022

36396655 (PubMed )
Supplement: 41467_2022_34746_MOESM20_ESM.xlsx › Fig_2_d

Systemic Mastocytosis and Other Entities Involving Mast Cells: A Practical Review and Update.

El Hussein S et al.

Cancers, 2022

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

35050442 (PubMed )
Supplement: 10120_2021_1274_MOESM1_ESM.docx

Melanoma Targeted Therapies beyond BRAF-Mutant Melanoma: Potential Druggable Mutations and Novel Treatment Approaches.

Khaddour K et al.

Cancers, 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

RTK Inhibitors in Melanoma: From Bench to Bedside.

Sabbah M et al.

Cancers, 2021

Mastocytosis.

Tzankov A et al.

American Journal of Clinical Pathology, 2021

KIT and Melanoma: Biological Insights and Clinical Implications.

Pham DDM et al.

Yonsei Medical Journal, 2020

Prognostic model for patient survival in primary anorectal mucosal melanoma: stage at presentation determines relevance of histopathologic features.

Nagarajan P et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

Combination of pembrolizumab and imatinib in a patient with double KIT mutant melanoma: A case report.

Abdou Y et al.

Medicine, 2019

Oncologist uptake of comprehensive genomic profile guided targeted therapy.

Nesline MK et al.

Oncotarget, 2019

31384390 (PubMed )
Supplement: oncotarget-10-4616-s003.xlsx › TblS2TargetedTherapyDecisions

Clinical mutational profiling and categorization of BRAF mutations in melanomas using next generation sequencing.

Lokhandwala PM et al.

Bmc Cancer, 2019

31277584 (PubMed )
Supplement: 12885_2019_5864_MOESM1_ESM.docx

SF3B1, NRAS, KIT, and BRAF Mutation; CD117 and cMYC Expression; and Tumoral Pigmentation in Sinonasal Melanomas: An Analysis With Newly Found Molecular Alterations and Some Population-Based Molecular Differences.

Wroblewska JP et al.

The American Journal of Surgical Pathology, 2019

Computational analysis reveals histotype-dependent molecular profile and actionable mutation effects across cancers.

Heim D et al.

Genome Medicine, 2018

30442178 (PubMed )
Supplement: 13073_2018_591_MOESM4_ESM.xlsx › Table_S2

Autosomal dominant progressive hyperpigmentation and lentigines in a Japanese pedigree due to a missense mutation near the C-terminus of KIT.

Takeichi T et al.

The British Journal of Dermatology, 2018

PIK3CA mutation is a favorable prognostic factor in esophageal cancer: molecular profile by next-generation sequencing using surgically resected formalin-fixed, paraffin-embedded tissue.

Yokota T et al.

Bmc Cancer, 2018

30115035 (PubMed )
Supplement: 12885_2018_4733_MOESM1_ESM.xlsx › raw_data_of_mutations

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 13

The clinical significance of c-Kit mutations in metastatic oral mucosal melanoma in China.

Ma X et al.

Oncotarget, 2017

Testing and clinical implications for non-V600 BRAF mutations in metastatic NRASmt melanoma.

Richtig G et al.

The British Journal of Dermatology, 2017

NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Cirenajwis H et al.

Molecular Oncology, 2017

Mutation scanning of BRAF, NRAS, KIT, and GNAQ/GNA11 in oral mucosal melanoma: a study of 57 cases.

Lyu J et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2016

Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis.

Ke H et al.

Cell & Bioscience, 2016

Phase II Trial of Nilotinib in Patients With Metastatic Malignant Melanoma Harboring KIT Gene Aberration: A Multicenter Trial of Korean Cancer Study Group (UN10-06).

Lee SJ et al.

The Oncologist, 2015

Mastocytosis: a mutated KIT receptor induced myeloproliferative disorder.

Chatterjee A et al.

Oncotarget, 2015

Oncogenic mutations in melanomas and benign melanocytic nevi of the female genital tract.

Tseng D et al.

Journal of the American Academy of Dermatology, 2014

Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype.

Chan EC et al.

The Journal of Allergy and Clinical Immunology, 2014

The FBXO4 tumor suppressor functions as a barrier to BRAFV600E-dependent metastatic melanoma.

Lee EK et al.

Molecular and Cellular Biology, 2013

Molecular characterization of two novel KIT mutations in patients with piebaldism.

Wasag B et al.

Journal of Dermatological Science, 2012

Anorectal melanoma with a KIT-activating mutation, which is a target for tyrosine kinase inhibitor.

Itoh M et al.

International Journal of Clinical Oncology, 2011

Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.

Wasag B et al.

Experimental Hematology, 2011

V559A and N822I double KIT mutant melanoma with predictable response to imatinib?

McDonnell K et al.

Pigment Cell & Melanoma Research, 2011

Correlation between KIT expression and KIT mutation in melanoma: a study of 173 cases with emphasis on the acral-lentiginous/mucosal type.

Torres-Cabala CA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2009

Novel R634W c-kit mutation identified in familial mastocytosis.

Pollard WL et al.

Pediatric Dermatology, 0

Lack of Response to Imatinib in Melanoma Carrying Rare KIT Mutation p.T632I.

Orlova KV et al.

Case Reports in Oncology, 0

31043947 (PubMed )
Supplement: cro-0012-0109-s01.pdf
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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."