Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.C456R
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NOTCH1

NM_017617.5:p.C456R

Associated Papers

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

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

NOTCH1 and PIK3CA mutation are related to HPV-associated vulvar squamous cell carcinoma.

Choschzick M et al.

Pathology, Research and Practice, 2023

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_19

Cleaved NOTCH1 Expression Pattern in Head and Neck Squamous Cell Carcinoma Is Associated with NOTCH1 Mutation, HPV Status, and High-Risk Features.

Rettig EM et al.

Cancer Prevention Research (philadelphia, Pa.), 2015

Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1.

Agrawal N et al.

Science (new York, N.y.), 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."