Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.Q556del1
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KIT

NM_000222.3:p.Q556del1

Associated Papers

Comprehensive Molecular Screening by Next Generation Sequencing of Gastrointestinal Stromal Tumors (GISTs): In Silico Analysis and Classification of Rare KIT Exon 11 Mutations.

Rodriquenz MG et al.

Cancer Medicine, 2025

Development of Highly Sensitive Digital Droplet PCR for Detection of cKIT Mutations in Circulating Free DNA That Mediate Resistance to TKI Treatment for Gastrointestinal Stromal Tumor (GIST).

Rassner M et al.

International Journal of Molecular Sciences, 2023

Circulating cKIT and PDGFRA DNA indicates disease activity in Gastrointestinal Stromal Tumor (GIST).

Jilg S et al.

International Journal of Cancer, 2019

Characterizing gastrointestinal stromal tumors and evaluating neoadjuvant imatinib by sequencing of endoscopic ultrasound-biopsies.

Hedenström P et al.

World Journal of Gastroenterology, 2017

Localization- and mutation-dependent microRNA (miRNA) expression signatures in gastrointestinal stromal tumours (GISTs), with a cluster of co-expressed miRNAs located at 14q32.31.

Haller F et al.

The Journal of Pathology, 2010

Increased KIT signalling with up-regulation of cyclin D correlates to accelerated proliferation and shorter disease-free survival in gastrointestinal stromal tumours (GISTs) with KIT exon 11 deletions.

Haller F et al.

The Journal of Pathology, 2008

KIT exon 11 codon 557/558 deletion/insertion mutations define a subset of gastrointestinal stromal tumors with malignant potential.

Kontogianni-Katsarou K et al.

World Journal of Gastroenterology, 2008

Array CGH analysis in primary gastrointestinal stromal tumors: cytogenetic profile correlates with anatomic site and tumor aggressiveness, irrespective of mutational status.

Wozniak A et al.

Genes, Chromosomes & Cancer, 2007

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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."