Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.C12S
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KIT

NM_000222.3:p.C12S

Associated Papers

The Occurrence of Gene Fusions in Thyroid Lesions and the Relation With Chronic Lymphocytic Thyroiditis.

Jentus MM et al.

Pathology International, 2026

41492106 (PubMed )
Supplement: PIN-76-0-s003.docx

Computational modeling of human genetic variants in mice.

Dong K et al.

Biorxiv : the Preprint Server for Biology, 2025

40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_6_KIT_pathogenecity.xlsx › Sheet1_AlphaMissense

Longitudinal ultra-sensitive mutation burden sequencing for precise minimal residual disease assessment in AML.

Wu Y et al.

Nature Communications, 2024

39543210 (PubMed )
Supplement: 41467_2024_54254_MOESM4_ESM.xlsx › No.12

Broad spectrum of regorafenib activity on mutant KIT and absence of clonal selection in gastrointestinal stromal tumor (GIST): correlative analysis from the GRID trial.

Jeffers M et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2022

35050442 (PubMed )
Supplement: 10120_2021_1274_MOESM1_ESM.docx

Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

Chevrier S et al.

International Journal of Molecular Medicine, 2022

35244186 (PubMed )
Supplement: Supplementary_Data2.xlsx › Feuil1

Development and Validation of Targeted Gene Sequencing Panel Based Companion Diagnostic for Korean Patients with Solid Tumors.

Min BJ et al.

Cancers, 2021

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

Transgenerational transmission of systemic mast cell activation disease-genetic and epigenetic features.

Molderings GJ

Translational Research : the Journal of Laboratory and Clinical Medicine, 2016

Identification of candidate genes for lung cancer somatic mutation test kits.

Chen Y et al.

Genetics and Molecular Biology, 2013

PIK3CA mutations in advanced cancers: characteristics and outcomes.

Janku F et al.

Oncotarget, 2012

Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.

Haenisch B et al.

Immunology, 2012

KRAS mutation is associated with lung metastasis in patients with curatively resected colorectal cancer.

Tie J et al.

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

21239505 (PubMed )
Supplement: 10780432ccr101720-sup-supplementary_tables_s1-s4.pdf

High sensitivity of both sequencing and real-time PCR analysis of KRAS mutations in colorectal cancer tissue.

Tol J et al.

Journal of Cellular and Molecular Medicine, 2010

Esophageal melanomas harbor frequent NRAS mutations unlike melanomas of other mucosal sites.

Sekine S et al.

Virchows Archiv : an International Journal of Pathology, 2009

High resolution melting analysis for the rapid and sensitive detection of mutations in clinical samples: KRAS codon 12 and 13 mutations in non-small cell lung cancer.

Krypuy M et al.

Bmc Cancer, 2006

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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."