Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.N505H
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KIT

NM_000222.3:p.N505H

Associated Papers

Clinicopathological and mutational characteristics of primary double mutant gastrointestinal stromal tumor: a single center study with review of the literature.

Yan J et al.

Bmc Cancer, 2023

A new KIT mutation (N505I) in acral melanoma confers constitutive signaling, favors tumorigenic properties, and is sensitive to imatinib.

Allegra M et al.

The Journal of Investigative Dermatology, 2014

Gastrointestinal stromal tumors with KIT exon 9 mutations: Update on genotype-phenotype correlation and validation of a high-resolution melting assay for mutational testing.

Künstlinger H et al.

The American Journal of Surgical Pathology, 2013

Lack of SF3B1 R625 mutations in cutaneous melanoma.

Schilling B et al.

Diagnostic Pathology, 2013

Molecular and clinicopathologic characterization of gastrointestinal stromal tumors (GISTs) of small size.

Rossi S et al.

The American Journal of Surgical 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."