Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.S451C
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KIT

NM_000222.3:p.S451C

Associated Papers

Genomic landscape and molecularly informed therapy in thymic carcinoma and other advanced thymic epithelial tumors.

Möhrmann L et al.

Med (new York, N.y.), 2025

Poor Applicability of Currently Available Prognostic Scoring Systems for Prediction of Outcome in KIT D816V-Negative Advanced Systemic Mastocytosis.

Naumann N et al.

Cancers, 2024

Diffuse Cutaneous Mastocytosis: A Current Understanding of a Rare Disease.

Rydz A et al.

International Journal of Molecular Sciences, 2024

Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Boström M et al.

Nature Communications, 2022

36396655 (PubMed )
Supplement: 41467_2022_34746_MOESM20_ESM.xlsx › Fig_2_d

Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

González-López O et al.

Cancers, 2022

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

Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis.

Nedoszytko B et al.

International Journal of Molecular Sciences, 2021

KIT and Melanoma: Biological Insights and Clinical Implications.

Pham DDM et al.

Yonsei Medical Journal, 2020

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

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 2

Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Jiang L et al.

Plos Genetics, 2016

27093186 (PubMed )
Supplement: pgen.1005895.s019.xlsx › Sheet1

Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis.

Ke H et al.

Cell & Bioscience, 2016

A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family.

Wang HJ et al.

Clinical and Experimental Dermatology, 2014

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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."