Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.R1594Q
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NOTCH1

NM_017617.5:p.R1594Q

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

Multiscale simulations reveal architecture of NOTCH protein and ligand specific features.

Rathore S et al.

Biophysical Journal, 2025

Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing.

Park HY et al.

Biomedicines, 2023

36979829 (PubMed )
Supplement: biomedicines-11-00851-s001.zip › biomedicines-2237878-supplementary.pdf

The way to precision medicine in gynecologic cancers: The first case report of an exceptional response to alpelisib in a PIK3CA-mutated endometrial cancer.

Passarelli A et al.

Frontiers in Oncology, 2022

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Miller EM et al.

Bmc Medical Genomics, 2020

33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1

Prenatal exome sequencing in fetuses with congenital heart defects.

Li R et al.

Clinical Genetics, 2020

DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.

Mäki-Nevala S et al.

Ebiomedicine, 2019

30578081 (PubMed )
Supplement: mmc1.pdf

Drug-sensitive FGFR3 mutations in lung adenocarcinoma.

Chandrani P et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2017

27998968 (PubMed )
Supplement: mdw636_supp.zip › Chandrani_et_al._suppl_tables_20161110.xlsx › S3.Variants

Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

Richter-Pechańska P et al.

Blood Cancer Journal, 2017

28157215 (PubMed )
Supplement: bcj20173x11.xlsx › SNVsInDelsCalled_in214Pts

Discovery of biomarkers predictive of GSI response in triple-negative breast cancer and adenoid cystic carcinoma.

Stoeck A et al.

Cancer Discovery, 2014

HRAS mutations are frequent in inverted urothelial neoplasms.

McDaniel AS et al.

Human Pathology, 2014

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."