Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R2429*
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NF1

NM_000267.3:p.R2429*

Associated Papers

Clinical outcomes of genomically guided trametinib monotherapy across cancer types: results from the IMPRESS-Norway trial.

Slørdahl KS et al.

Acta Oncologica (stockholm, Sweden), 2026

41664938 (PubMed )
Supplement: AO-65-45086-s1.pdf

Common gene mutations in 103 authenticated colorectal cancer cell lines.

Kranjec C et al.

Oncogenesis, 2026

41593049 (PubMed )
Supplement: 41389_2026_599_MOESM2_ESM.xlsx › Supplementary_Table_9

Clonal Progression of a DNA Polymerase Epsilon-Mutant Endometrial Cancer With Immune Evasion Characteristics and Metastasis.

Fan R et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2026

A rare large cell variant of small-cell carcinoma of the ovary, hypercalcemic type in a postmenopausal woman: Case report.

Liu S et al.

Medicine, 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

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.

Scollon S et al.

Jco Precision Oncology, 2025

41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

Whole-miRNome sequencing: a panel for the targeted sequencing of all human miRNA genes.

Galka-Marciniak P et al.

Nucleic Acids Research, 2025

40867048 (PubMed )
Supplement: gkaf812_supplemental_files.zip › Supplementary_Table_S5_List_of_mutations_cancer_samples.xlsx › cancer_drivers

Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.

Fei H et al.

Orphanet Journal of Rare Diseases, 2025

40410838 (PubMed )
Supplement: 13023_2025_3807_MOESM1_ESM.xlsx › Supplementary_Table_2

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

Multi-gene panel sequencing reveals the relationship between driver gene mutation and clinical characteristics in lung adenocarcinoma.

Li J et al.

Discover Oncology, 2025

40053265 (PubMed )
Supplement: 12672_2025_2008_MOESM1_ESM.xlsx › Table_S2

Molecular insights into genodermatoses: Genetic findings from 43 patients.

Sama AD et al.

Archives of Dermatological Research, 2025

Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.

Lucas CG et al.

Neuro-oncology, 2025

39560080 (PubMed )
Supplement: noae214_suppl_supplementary_tables.xlsx › Table_S5

Identification of a putative molecular subtype of adult-type diffuse astrocytoma with recurrent MAPK pathway alterations.

Sievers P et al.

Acta Neuropathologica, 2024

39026106 (PubMed )
Supplement: 401_2024_2766_MOESM1_ESM.xlsx › Supplementary_Table_3

Fetal Type Morphologies Suggest the Presence of DICER1 Hotspot Mutations in Non-small Cell Lung Cancer.

Chong AL et al.

The American Journal of Surgical Pathology, 2024

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

Carcavilla A et al.

Journal of Clinical Medicine, 2023

37568403 (PubMed )
Supplement: jcm-12-05003-s001.zip › jcm-2490499-supplementary.pdf

Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.

Fitzgerald S et al.

Molecular Diagnosis & Therapy, 2023

37099071 (PubMed )
Supplement: 40291_2023_651_MOESM1_ESM.xlsx › Suppl._Table_2

Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children.

Nasi L et al.

Acta Dermato-venereologica, 2023

37272364 (PubMed )
Supplement: ActaDV-103-5758-s1.pdf

POLE exonuclease domain mutations in endometrial carcinoma: a case report.

Pasciuto MP et al.

Pathologica, 2023

Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors.

Kim M et al.

Cancer Research and Treatment, 2023

36470260 (PubMed )
Supplement: crt-2022-891-Supplementary-Table-2.pdf

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

Ognibene M et al.

Cancers, 2023

Assessment of aggressive bladder cancer mutations in plasma cell-free DNA.

Carrasco R et al.

Frontiers in Oncology, 2023

38098507 (PubMed )
Supplement: DataSheet_3.xlsx › Pt_1

Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.

Sivakumar S et al.

Nature Communications, 2022

36470901 (PubMed )
Supplement: 41467_2022_35245_MOESM4_ESM.xlsx › Supplementary_Data_17

Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome.

Kurtz KJ et al.

Pediatric Hematology and Oncology, 2022

Lenalidomide promotes the development of TP53-mutated therapy-related myeloid neoplasms.

Sperling AS et al.

Blood, 2022

35512188 (PubMed )
Supplement: BLOOD_BLD-2021-014956-mmc1.pdf

Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.

Zhang Y et al.

Neuro-oncology, 2022

35395677 (PubMed )
Supplement: noac089_suppl_supplementary_tables_s1-s11.xlsx › Table_S2_TCGA_cohort

Genomic landscape of advanced endometrial cancer analyzed by targeted next-generation sequencing and the cancer genome atlas (TCGA) dataset.

Hong JH et al.

Journal of Gynecologic Oncology, 2022

35128859 (PubMed )
Supplement: jgo-33-e29-s002.xls › jgo-33-e29-s002

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.

Neurofibromatosis Type 1 Has a Wide Spectrum of Growth Hormone Excess.

Hannah-Shmouni F et al.

Journal of Clinical Medicine, 2022

Targeting Oncogenic Pathways in the Era of Personalized Oncology: A Systemic Analysis Reveals Highly Mutated Signaling Pathways in Cancer Patients and Potential Therapeutic Targets.

Karagiannakos A et al.

Cancers, 2022

Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.

Riva M et al.

Genes, Chromosomes & Cancer, 2022

Expression of neurofibromin 1 in colorectal cancer and cetuximab resistance.

Tak E et al.

Oncology Reports, 2022

34779495 (PubMed )
Supplement: Supplementary_Data.pdf

Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Nguyen HT et al.

Frontiers in Oncology, 2022

36578946 (PubMed )
Supplement: DataSheet_2.xlsx › Variants_detected_in_FFPE

Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Zhang Y et al.

Cell Reports, 2021

34788622 (PubMed )
Supplement: NIHMS1757901-supplement-2.xlsx › SNVs_indels

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

Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.

Sun H et al.

Nature Communications, 2021

34429404 (PubMed )
Supplement: 41467_2021_25177_MOESM8_ESM.xlsx › Sheet1

Actionability evaluation of biliary tract cancer by genome transcriptome analysis and Asian cancer knowledgebase.

Okawa Y et al.

Oncotarget, 2021

34316332 (PubMed )
Supplement: oncotarget-12-1540-s001.pdf

Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.

Tsui DWY et al.

Genome Medicine, 2021

34059130 (PubMed )
Supplement: 13073_2021_898_MOESM3_ESM.xlsx › SuppTable1

Survival and NF1 Analysis in a Cohort of Orthopedics Patients with Malignant Peripheral Nerve Sheath Tumors.

Knewitz DK et al.

Sarcoma, 2021

Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Pandey A et al.

Nature Communications, 2020

32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM1_ESM.pdf

Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Boot A et al.

Genome Research, 2020

32661091 (PubMed )
Supplement: supp_gr.255620.119_Supplemental_Table_S2.xlsx › Sheet1

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM10_ESM.xlsx › Sheet1

Genomic Profiling Identified Novel Prognostic Biomarkers in Chinese Midline Glioma Patients.

Li H et al.

Frontiers in Oncology, 2020

33747896 (PubMed )
Supplement: Table_1.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."