Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.E633K
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KIT

NM_000222.3:p.E633K

Associated Papers

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

A kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy has a dominant inhibitory impact on CSF1R signalling.

Stables J et al.

Development (cambridge, England), 2022

35333324 (PubMed )
Supplement: develop-149-200237_review_history.pdf

Large-scale analysis of PDGFRA mutations in melanomas and evaluation of their sensitivity to tyrosine kinase inhibitors imatinib and crenolanib.

Dai J et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013

CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.

Pridans C et al.

Scientific Reports, 2013

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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."