Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q1360*
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NF1

NM_001042492.3:p.Q1360*

Associated Papers

Clinical benefit of additional whole-exome sequencing over panel sequencing in an all-comer real-world molecular tumor board.

Krieghoff-Henning E et al.

Esmo Open, 2025

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276.

Selig M et al.

Febs Open Bio, 2025

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.

Safonov A et al.

Nature Communications, 2025

40169570 (PubMed )
Supplement: 41467_2025_57077_MOESM3_ESM.xlsx › Supplementary_Data_4

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

Molecular Features of Resected Melanoma Brain Metastases, Clinical Outcomes, and Responses to Immunotherapy.

Vasudevan HN et al.

Jama Network Open, 2023

37589977 (PubMed )
Supplement: jamanetwopen-e2329186-s001.xlsx › TableS1

Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.

Ansari-Pour N et al.

Blood, 2023

36223594 (PubMed )
Supplement: BLOOD_BLD-2022-017010-mmc2.xlsx › Supplementary_Table_S2

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

Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants.

Hazan F et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

Characterization of NF1 frameshift mutations in pediatric patients with neurofibromatosis type I.

Villa-Morales J et al.

Genetics and Molecular Research : Gmr, 2015

Longitudinal profiling of IDH-mutant astrocytomas reveals acquired RAS-MAPK pathway mutations associated with inferior survival.

Rodriguez Almaraz E et al.

Neuro-oncology Advances, 0

40051658 (PubMed )
Supplement: vdaf024_suppl_supplementary_tables_s1-s4.xlsx › 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."