Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R416Q
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NF1

NM_001042492.3:p.R416Q

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

RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity.

Bonetti E et al.

Human Genomics, 2025

40887659 (PubMed )
Supplement: 40246_2025_803_MOESM3_ESM.xlsx › Sheet_1

Molecular characterization of the evolution of premalignant lesions in the upper aerodigestive tract.

Lechner A et al.

Frontiers in Oncology, 2024

38706595 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Oligosarcomas, IDH-mutant are distinct and aggressive.

Suwala AK et al.

Acta Neuropathologica, 2022

34967922 (PubMed )
Supplement: 401_2021_2395_MOESM2_ESM.xlsx › Sequencing

In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.

Accetturo M et al.

International Journal of Molecular Sciences, 2020

31979111 (PubMed )
Supplement: ijms-21-00721-s001.zip › ijms-614345-supplementary_files › Supplementary_Table_S3.xlsx › Suppl._Table_S3

Recurrent PDGFRB mutations in unicentric Castleman disease.

Li Z et al.

Leukemia, 2019

30607019 (PubMed )
Supplement: 41375_2018_323_MOESM5_ESM.xls › Table_S2
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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."