Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.N566D
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KIT

NM_000222.3:p.N566D

Associated Papers

Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.

Breen KE et al.

Npj Precision Oncology, 2025

41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S4-Somatic_Variants

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Protein Tyrosine Phosphatase Non-Receptor 11 (PTPN11/Shp2) as a Driver Oncogene and a Novel Therapeutic Target in Non-Small Cell Lung Cancer (NSCLC).

Richards CE et al.

International Journal of Molecular Sciences, 2023

37445722 (PubMed )
Supplement: ijms-24-10545-s001.zip › PTPN11_paper_supplementary_tables_25042023.pdf

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

The Human Melanoma Proteome Atlas-Complementing the melanoma transcriptome.

Betancourt LH et al.

Clinical and Translational Medicine, 2021

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

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

Massively parallel sequencing fails to detect minor resistant subclones in tissue samples prior to tyrosine kinase inhibitor therapy.

Heydt C et al.

Bmc Cancer, 2015

microRNA expression signatures of gastrointestinal stromal tumours: associations with imatinib resistance and patient outcome.

Akçakaya P et al.

British Journal of Cancer, 2014

C-kit expression of melanocytic neoplasm and association with clinicopathological parameters and anatomic locations in Chinese people.

Lin YC et al.

The American Journal of Dermatopathology, 2013

Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas.

Griewank KG et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013

23633454 (PubMed )
Supplement: 10780432ccr130163-sup-tab1-3.pdf

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Pommier SJ et al.

Annals of Surgical Oncology, 2012

21748247 (PubMed )
Supplement: 10434_2011_1892_MOESM2_ESM.pdf

Lack of correlation between immunohistochemical expression of CKIT and KIT mutations in atypical acral nevi.

Park E et al.

The American Journal of Dermatopathology, 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

Large-scale analysis of KIT aberrations in Chinese patients with melanoma.

Kong Y et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2011

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

McDonnell K et al.

Pigment Cell & Melanoma Research, 2011

Prognostic relevance of KIT and PDGFRA mutations in gastrointestinal stromal tumors.

Braggio E et al.

Anticancer Research, 2010

Mutations of the KIT gene and loss of heterozygosity of the PTEN region in a primary malignant melanoma arising from a mature cystic teratoma of the ovary.

Tate G et al.

Cancer Genetics and Cytogenetics, 2009

KIT gene mutations and copy number in melanoma subtypes.

Beadling C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008

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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."