Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.S82F
Back to variants list

NF1

NM_001042492.3:p.S82F

Associated Papers

Deciphering lung adenocarcinoma evolution and the role of LINE-1 retrotransposition.

Zhang T et al.

Biorxiv : the Preprint Server for Biology, 2025

40161734 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_4

Clinical Practice of Targeted Capture Sequencing to Identify Actionable Alterations in Cholangiocarcinoma.

Ma K et al.

Cancers, 2022

36291846 (PubMed )
Supplement: cancers-14-05062-s001.zip › Supplementary_Tables.xlsx › Table_S3

Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.

Lucas CG et al.

Acta Neuropathologica, 2022

35945463 (PubMed )
Supplement: 401_2022_2478_MOESM1_ESM.xlsx › Table_S11

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF1

Tumor and Constitutional Sequencing for Neurofibromatosis Type 1.

Tong S et al.

Jco Precision Oncology, 2022

Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Kim H et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2022

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

Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site.

Brekelmans C et al.

Human Mutation, 2019

Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.

de Unamuno Bustos B et al.

Scientific Reports, 2017

28356599 (PubMed )
Supplement: 41598_2017_606_MOESM2_ESM.xls › Table_S1

RASopathy Gene Mutations in Melanoma.

Halaban R et al.

The Journal of Investigative Dermatology, 2016

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Kiel C et al.

Molecular Systems Biology, 2014

24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies

Molecular diagnosis of neurofibromatosis type 1: 2 years experience.

Griffiths S et al.

Familial Cancer, 2007

NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

Kluwe L et al.

Human Mutation, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."