Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.C478F
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NOTCH1

NM_017617.5:p.C478F

Associated Papers

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › sitednds_oral

Assessment of TP53 and CDKN2A status as predictive markers of malignant transformation of sinonasal inverted papilloma.

Kwon S et al.

Scientific Reports, 2024

38902320 (PubMed )
Supplement: 41598_2024_64901_MOESM1_ESM.xlsx › SCC

Notch1 mutations drive clonal expansion in normal esophageal epithelium but impair tumor growth.

Abby E et al.

Nature Genetics, 2023

36658434 (PubMed )
Supplement: 41588_2022_1280_MOESM4_ESM.xlsx › Sup_Table_2

NOTCH1 Signaling in Head and Neck Squamous Cell Carcinoma.

Shah PA et al.

Cells, 2020

PDK1 Mediates NOTCH1-Mutated Head and Neck Squamous Carcinoma Vulnerability to Therapeutic PI3K/mTOR Inhibition.

Sambandam V et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

The Distinctive Mutational Spectra of Polyomavirus-Negative Merkel Cell Carcinoma.

Harms PW et al.

Cancer Research, 2015

Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers.

Pickering CR et al.

Cancer Discovery, 2013

Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma.

Wang NJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

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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."