Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.L862L
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KIT

NM_000222.3:p.L862L

Associated Papers

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

Mutational profiling using liquid biopsy to guide targeted therapy in patients with metastatic cancer.

Mazouji O et al.

Scientific Reports, 2025

40169620 (PubMed )
Supplement: 41598_2025_88094_MOESM1_ESM.xlsx › Feuil1

Single-Cell DNA Sequencing Reveals an Evolutionary Pattern of CHIP in Transplant Eligible Multiple Myeloma Patients.

Borsi E et al.

Cells, 2024

38667272 (PubMed )
Supplement: cells-13-00657-s001.zip › cells-2905095-supplementary.pdf

Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers.

Lin I et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38370823 (PubMed )
Supplement: media-1.xlsx › Table_S5_CHIPVAFlt03

The use of therapeutic drug monitoring to highlight an over-looked drug-drug interaction leading to imatinib treatment failure.

Gagno S et al.

Daru : Journal of Faculty of Pharmacy, Tehran University of Medical Sciences, 2023

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S11.HighCovVariantsSurvPanel

Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.

Kaissarian NM et al.

Journal of the National Cancer Institute, 2022

Association of Pathway Mutations With Survival in Taiwanese Breast Cancers.

Yang PS et al.

Frontiers in Oncology, 2022

35936696 (PubMed )
Supplement: DataSheet_1.zip › Supplementary_Table_4.xlsx › ___2

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

García-Cárdenas JM et al.

Journal of Medical Case Reports, 2020

32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC36

Targeted next generation sequencing identifies somatic mutations in a cohort of Egyptian breast cancer patients.

Nassar A et al.

Journal of Advanced Research, 2020

Next-generation sequencing identifies novel single nucleotide polymorphisms in high-risk cutaneous squamous cell carcinoma: A pilot study.

Lobl MB et al.

Experimental Dermatology, 2020

Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.

Ramassone A et al.

Journal of Hematology & Oncology, 2019

31744508 (PubMed )
Supplement: 13045_2019_802_MOESM4_ESM.pdf

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

Case report of rhabdomyosarcomatous transformation of a primary gastrointestinal stromal tumor (GIST).

Li L et al.

Bmc Cancer, 2019

Detailed overview on the mutations detected by and the sensitivity of the GeneReader NGS sequencing platform.

Lüsebrink J et al.

Data in Brief, 2018

Germline mutation in the TP53 gene in uveal melanoma.

Hajkova N et al.

Scientific Reports, 2018

29769598 (PubMed )
Supplement: 41598_2018_26040_MOESM2_ESM.xlsx › Supplementary_Table_S1

Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.

de Kock L et al.

British Journal of Cancer, 2017

28524158 (PubMed )
Supplement: bjc2017147x1.pdf

[Identification of a novel KIT mutation in a Chinese family affected with piebaldism].

Wang R et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016

Clinical Validation and Implementation of a Targeted Next-Generation Sequencing Assay to Detect Somatic Variants in Non-Small Cell Lung, Melanoma, and Gastrointestinal Malignancies.

Fisher KE et al.

The Journal of Molecular Diagnostics : Jmd, 2016

A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.

Sun Y et al.

The Canadian Journal of Cardiology, 2015

Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Abedalthagafi MS et al.

Oncotarget, 2014

25347344 (PubMed )
Supplement: oncotarget-05-10596-s002.xlsx › Table_S4

Specific analysis of KIT and PDGFR-alpha expression and mutational status in Merkel cell carcinoma.

Swick BL et al.

Journal of Cutaneous Pathology, 2013

Genetic variation at KIT locus may predispose to melanoma.

Bourillon A et al.

Pigment Cell & Melanoma Research, 2013

Unexpected distribution of cKIT and BRAF mutations among southern Italian patients with sinonasal melanoma.

Colombino M et al.

Dermatology (basel, Switzerland), 2013

KIT amplification and gene mutations in acral/mucosal melanoma in Korea.

Yun J et al.

Apmis : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica, 2011

Merkel cell carcinoma: correlation of KIT expression with survival and evaluation of KIT gene mutational status.

Andea AA et al.

Human Pathology, 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."