Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.D464N
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NOTCH1

NM_017617.5:p.D464N

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

Mutations observed in somatic evolution reveal underlying gene mechanisms.

Hall MWJ et al.

Communications Biology, 2023

Cancer-associated Notch receptor variants lead to O-fucosylation defects that deregulate Notch signaling.

Pennarubia F et al.

The Journal of Biological Chemistry, 2022

36265581 (PubMed )
Supplement: mmc18.xlsx › Table_S19

Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.

Omura T et al.

Cancers, 2022

35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › VUS

Ultradeep sequencing differentiates patterns of skin clonal mutations associated with sun-exposure status and skin cancer burden.

Wei L et al.

Science Advances, 2021

33523857 (PubMed )
Supplement: abd7703_SM.pdf

Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Wang S et al.

Frontiers in Oncology, 2020

32373528 (PubMed )
Supplement: Table_6.xlsx › Sheet1
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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."