Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.N46S
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NOTCH2

NM_024408.4:p.N46S

Associated Papers

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM1_ESM.pdf

Identification of genetic risk variants for Type-2 Diabetes mellitus in Pakistani Pashtun population: A case-control association study.

Jan A et al.

Pakistan Journal of Medical Sciences, 2024

Somatic Mutation of PRKAR1A in Four Cases of Sporadic Cardiac Myxoma.

Sun Y et al.

Archives of Iranian Medicine, 2023

38310436 (PubMed )
Supplement: aim-26-346-s001.pdf

Decoding type 2 diabetes mellitus genetic risk variants in Pakistani Pashtun ethnic population using the nascent whole exome sequencing and MassARRAY genotyping: A case-control association study.

Jan A et al.

Plos One, 2023

Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Kim SC et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022

34918496 (PubMed )
Supplement: ADVS-9-2103360-s002.xlsx › Table_S2B

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Fu W et al.

Bmc Medical Genomics, 2021

34001105 (PubMed )
Supplement: 12920_2021_979_MOESM2_ESM.xlsx › data

Association of HLA-B Gene Polymorphisms with Type 2 Diabetes in Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan.

Jan A et al.

Journal of Diabetes Research, 2021

34258292 (PubMed )
Supplement: 6669731.f1.zip › 6669731.f1 › 6669731.f1.pdf

Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.

Cui Y et al.

Plos One, 2021

34478472 (PubMed )
Supplement: pone.0256979.s003.xlsx › COSMICv87_HNSCC

Most canine ameloblastomas harbor HRAS mutations, providing a novel large-animal model of RAS-driven cancer.

Saffari PS et al.

Oncogenesis, 2019

30741938 (PubMed )
Supplement: 41389_2019_119_MOESM2_ESM.xlsx › Table_S3

False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Kim YH et al.

Plos One, 2019

31513681 (PubMed )
Supplement: pone.0222535.s004.xlsx › Sheet1

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

Zhou QH et al.

Cell Death & Disease, 2018

Case report: an unusual case of Brugada syndrome combined with a ventricular septal defect: A case report.

Liu X et al.

Medicine, 2017

Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Li YY et al.

Nature Communications, 2017

28098136 (PubMed )
Supplement: ncomms14121-s9.xlsx › Germline_Variants

Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience.

Marks LJ et al.

Frontiers in Pediatrics, 2017

29312904 (PubMed )
Supplement: Table_2.xlsx › Table_S2

Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.

Oberg JA et al.

Genome Medicine, 2016

28007021 (PubMed )
Supplement: 13073_2016_389_MOESM5_ESM.xlsx › VOUS

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › M121224

Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders.

Margolskee E et al.

Oncotarget, 2016

27203213 (PubMed )
Supplement: oncotarget-07-37636-s002.xlsx › Table_S3

A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Lu C et al.

Cold Spring Harbor Molecular Case Studies, 2016

27148581 (PubMed )
Supplement: supp_2.1.a000687_Supp_Table_2.xlsx › germline.missense

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Ilyas M et al.

Bmc Genomics, 2015

25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM7_ESM.xlsx › Sheet1

Frequent mutations in TP53 and CDKN2A found by next-generation sequencing of head and neck cancer cell lines.

Nichols AC et al.

Archives of Otolaryngology--head & Neck Surgery, 2012

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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."