Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.R2549C
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NOTCH1

NM_017617.5:p.R2549C

Associated Papers

Comprehensive genomic landscape of metastatic hormone-sensitive prostate cancer in the Chinese population.

Yang B et al.

World Journal of Surgical Oncology, 2025

41121095 (PubMed )
Supplement: 12957_2025_4049_MOESM3_ESM.xlsx › Somatic_mutations

Identifying Pathogenic Variants in Vietnamese Children with Functional Single Ventricle Based on Whole-Exome Sequencing.

Tu LT et al.

Diagnostics (basel, Switzerland), 2025

Implications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients.

Bruenger CMH et al.

European Journal of Human Genetics : Ejhg, 2025

40646242 (PubMed )
Supplement: 41431_2025_1909_MOESM2_ESM.xlsx › ST2

Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma.

Yeh CN et al.

Npj Precision Oncology, 2025

39809865 (PubMed )
Supplement: 41698_2025_802_MOESM1_ESM.pdf

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.

Zhou Y et al.

Journal of Translational Medicine, 2023

38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1

Association of Pathway Mutations With Survival in Taiwanese Breast Cancers.

Yang PS et al.

Frontiers in Oncology, 2022

35936696 (PubMed )
Supplement: DataSheet_1.zip › Supplementary_Table_4.xlsx › ___2

Clinical Features and Prognostic Significance of NOTCH1 Mutations in Diffuse Large B-Cell Lymphoma.

Li Z et al.

Frontiers in Oncology, 2021

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

Frequency and distribution of Notch mutations in tumor cell lines.

Mutvei AP et al.

Bmc Cancer, 2015

25907971 (PubMed )
Supplement: 12885_2015_1278_MOESM2_ESM.xlsx › suppdatagrejen
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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."