Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.V2536I
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NOTCH1

NM_017617.5:p.V2536I

Associated Papers

NOTCH1 and SF3B1 mutations in chronic lymphocytic leukemia with their clinical associations.

Ahmed VR et al.

Leukemia & Lymphoma, 2026

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Alkhamis FA et al.

Functional & Integrative Genomics, 2023

36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

Wagener R et al.

European Journal of Human Genetics : Ejhg, 2021

33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_TSG

Identification of novel NOTCH1 mutations: increasing our knowledge of the NOTCH signaling pathway.

Gallo Llorente L et al.

Pediatric Blood & Cancer, 2014

T-cell lymphoblastic leukemia in early childhood presents NOTCH1 mutations and MLL rearrangements.

Mansur MB et al.

Leukemia Research, 2010

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.

McBride KL et al.

Human Molecular Genetics, 2008

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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."