Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.C467F
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NOTCH1

NM_017617.5:p.C467F

Associated Papers

Unraveling LINE-1 retrotransposition in head and neck squamous cell carcinoma.

Brea-Iglesias J et al.

Molecular Oncology, 2025

40465458 (PubMed )
Supplement: MOL2-19-3769-s001.xlsx › Table_S5

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

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

TSC angiofibroma and ungual fibroma have different mutation signatures, with recurrent mutations in KMT2C.

Klonowska K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Skin Cancer Risk Is Increased by Somatic Mutations Detected Noninvasively in Healthy-Appearing Sun-Exposed Skin.

Kaur K et al.

The Journal of Investigative Dermatology, 2024

Organismal metabolism regulates the expansion of oncogenic PIK3CA mutant clones in normal esophagus.

Herms A et al.

Nature Genetics, 2024

39169259 (PubMed )
Supplement: 41588_2024_1891_MOESM6_ESM.xlsx › Fig_1a

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

Choschzick M et al.

Pathology, Research and Practice, 2023

Somatic mutations in facial skin from countries of contrasting skin cancer risk.

King C et al.

Nature Genetics, 2023

37537257 (PubMed )
Supplement: 41588_2023_1468_MOESM3_ESM.xlsx › Supp_Table_1

Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.

Zhou QH et al.

Cell Death & Disease, 2018

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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."