Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q1785*
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NF1

NM_000267.3:p.Q1785*

Associated Papers

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

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

Lack of Influence of Non-Overlapping Mutations in BRAF, NRAS, or NF1 on 12-Month Best Objective Response and Long-Term Survival after Checkpoint Inhibitor-Based Treatment for Metastatic Melanoma.

Panning A et al.

Cancers, 2023

37444637 (PubMed )
Supplement: cancers-15-03527-s001.zip › Alyssa_Supplemental_Table_S1_pt_demographics_8-14-22.pdf

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.

Yin XQ et al.

Frontiers in Oncology, 2022

35936718 (PubMed )
Supplement: Table_4.xlsx › MAF_infomation

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Melloni G et al.

Cancers, 2019

Locus-specific concordance of genomic alterations between tissue and plasma circulating tumor DNA in metastatic melanoma.

Calapre L et al.

Molecular Oncology, 2019

30312528 (PubMed )
Supplement: MOL2-13-171-s003.xlsx › Table_S2
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