Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.S840N
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KIT

NM_000222.3:p.S840N

Associated Papers

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

Detection of KIT Mutations in Systemic Mastocytosis: How, When, and Why.

Cilloni D et al.

International Journal of Molecular Sciences, 2024

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

Ręka G et al.

Cells, 2023

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

El Hussein S et al.

Cancers, 2022

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

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

Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.

Sun H et al.

Nature Communications, 2021

34429404 (PubMed )
Supplement: 41467_2021_25177_MOESM8_ESM.xlsx › Sheet1

Genomic profile of advanced breast cancer in circulating tumour DNA.

Kingston B et al.

Nature Communications, 2021

33893289 (PubMed )
Supplement: 41467_2021_22605_MOESM4_ESM.xlsx › SNVs_Indels

Mastocytosis.

Tzankov A et al.

American Journal of Clinical Pathology, 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

Metastases risk in thin cutaneous melanoma: prognostic value of clinical-pathologic characteristics and mutation profile.

Richetta AG et al.

Oncotarget, 2018

KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis.

Arock M et al.

Leukemia, 2015

Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation.

Hoffmann KM et al.

Blood, 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."