Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R1362Q
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NF1

NM_001042492.3:p.R1362Q

Associated Papers

Generative prediction of causal gene sets responsible for complex traits.

Kuznets-Speck B et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40504147 (PubMed )
Supplement: pnas.2415071122.sd01.xlsx › Metadata_Table

Inferred clonal hematopoiesis from tumor DNA sequencing among men with prostate cancer: correlation with somatic tumor alterations and outcomes.

Iranmanesh Y et al.

The Oncologist, 2025

40260993 (PubMed )
Supplement: oyaf049_suppl_supplementary_tables_1.xlsx › Sheet1

Combination of mutations in genes controlling DNA repair and high mutational load plays a prognostic role in pancreatic ductal adenocarcinoma (PDAC): a retrospective real-life study in Sardinian population.

Sini MC et al.

Journal of Translational Medicine, 2024

38280995 (PubMed )
Supplement: 12967_2024_4923_MOESM1_ESM.pdf

Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.

Ha C et al.

Genes, 2021

34573290 (PubMed )
Supplement: genes-12-01308-s001.zip › Table_S1.xlsx › NF1_Variants

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

Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.

Krkljus S et al.

Human Mutation, 1998

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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."