Varaico: Literature-Extracted Genetic Variants

Gene:BRAF
Variant:p.F595L
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BRAF

NM_004333.6:p.F595L

Associated Papers

Current opinions on Noonan syndrome and RASopathies.

Weaver KN et al.

Current Opinion in Pediatrics, 2026

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

PIK3CB Inhibitor GSK2636771 in Cancers With PTEN Mutation/Deletion or Loss of PTEN Protein Expression: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols N and P.

Janku F et al.

Jco Precision Oncology, 2025

40865033 (PubMed )
Supplement: protocol1_PO-25-00265.pdf

Small Molecule B-RAF Inhibitors as Anti-Cancer Therapeutics: Advances in Discovery, Development, and Mechanistic Insights.

Anaya YA et al.

International Journal of Molecular Sciences, 2025

BRAF V600E in cancer: Exploring structural complexities, mutation profiles, and pathway dysregulation.

Bharti J et al.

Experimental Cell Research, 2025

Genomic Landscapes of Early-Onset Versus Average-Onset Colorectal Cancer Populations.

Storandt MH et al.

Cancers, 2025

40075683 (PubMed )
Supplement: cancers-17-00836-s001.zip › cancers-3446894-supplementary.pdf

BRAF mutant appendiceal adenocarcinoma differs from colorectal cancer but responds to BRAF-targeted therapy.

Pattalachinti VK et al.

Npj Precision Oncology, 2025

39910160 (PubMed )
Supplement: 41698_2025_821_MOESM1_ESM.pdf

Oncogenic non-V600 mutations evade the regulatory machinery of RAF including the Cdc37/Hsp90 chaperone and the 14-3-3 scaffold.

Wan X et al.

Theranostics, 2025

VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.

Ohno S et al.

Computational and Structural Biotechnology Journal, 2025

40160862 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy.

Dahlin M et al.

Brain Communications, 2025

40290421 (PubMed )
Supplement: fcaf134_supplementary_data.zip › Dahlin_et_al._Supplementary_table_3_revised.xlsx › Bara_EP

Preclinical NCI-MPACT: prospective modeling of the mutation-based NCI-MPACT clinical trial therapeutic strategy in patient-derived xenograft models.

Evrard YA et al.

Frontiers in Oncology, 2025

40458731 (PubMed )
Supplement: Table1.xlsx › Supplementry_Table_1_aMOI

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

Di Majo BE et al.

Frontiers in Immunology, 2025

40692796 (PubMed )
Supplement: Table1.xlsx › Foglio1

Indeterminate DC histiocytosis is distinct from LCH and often associated with other hematopoietic neoplasms.

Ozkaya N et al.

Blood Advances, 2024

PD-L1 and nectin-4 expression and genomic characterization of bladder cancer with divergent differentiation.

Martini DJ et al.

Cancer, 2024

Therapeutic vulnerabilities and pan-cancer landscape of BRAF class III mutations in epithelial solid tumors.

Özgü E et al.

Bjc Reports, 2024

Features and efficacy of triple-targeted therapy for patients with EGFR-mutant non-small-cell lung cancer with acquired BRAF alterations who are resistant to epidermal growth factor receptor tyrosine kinase inhibitors.

Li Y et al.

Esmo Open, 2024

Targeting Non-V600 Mutations in BRAF: A Single Institution Retrospective Analysis and Review of the Literature.

Chaudhary HA et al.

Drugs in R&d, 2024

Mutational Landscapes of Normal Skin and Their Potential Implications in the Development of Skin Cancer: A Comprehensive Narrative Review.

Riew TR et al.

Journal of Clinical Medicine, 2024

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › BRAF

Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib.

Gazzin A et al.

Life (basel, Switzerland), 2024

Clonal hematopoiesis is associated with cardiovascular events in patients with stable coronary artery disease.

Dregoesc MI et al.

Iscience, 2024

38558938 (PubMed )
Supplement: mmc4.xlsx › Variant_characteristics

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication.

Kenney-Jung DL et al.

American Journal of Medical Genetics. Part A, 2024

Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.

Musto E et al.

Epilepsia Open, 2024

Identification of an unusual combination of actionable mutations through genomic profiling in a child with an aggressive sarcoma.

Sherif S et al.

Pediatric Blood & Cancer, 2024

Exploring the clinical complexity of cardio-facio-cutaneous syndrome: insights from a pediatric case series.

Ou Y et al.

Frontiers in Pediatrics, 2024

Non-canonical BRAF variants and rearrangements in hairy cell leukemia.

Langabeer SE

Oncology Research, 2024

Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.

Zou H et al.

Frontiers in Genetics, 2024

39906551 (PubMed )
Supplement: Table1.xlsx › Table_S2

BRAF mutations and concurrent alterations in patients with soft tissue sarcoma.

Kobayashi H et al.

Genes, Chromosomes & Cancer, 2023

Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.

Crincoli E et al.

American Journal of Medical Genetics. Part A, 2023

Treatment of Refractory Epilepsy With MEK Inhibitor in Patients With RASopathy.

D'Onofrio G et al.

Pediatric Neurology, 2023

Unique Spectrum of Activating BRAF Alterations in Prostate Cancer.

Chehrazi-Raffle A et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

37477913 (PubMed )
Supplement: ccr-23-1393_supplementary_data_1_suppds1.xlsx › Figure_2D

Circulating Tumor DNA: A Promising Biomarker for Predicting Recurrence in Patients with BRAF-Negative Melanoma.

Aoude LG et al.

The Journal of Molecular Diagnostics : Jmd, 2023

BRAF Non-V600 Mutations in Metastatic Colorectal Cancer.

Liu J et al.

Cancers, 2023

Hairy cell leukaemia with unusual BRAF mutations.

Maitre E et al.

Journal of Cellular and Molecular Medicine, 2023

BRAFΔβ3-αC in-frame deletion mutants differ in their dimerization propensity, HSP90 dependence, and druggability.

Lauinger M et al.

Science Advances, 2023

Protein Tyrosine Phosphatase Non-Receptor 11 (PTPN11/Shp2) as a Driver Oncogene and a Novel Therapeutic Target in Non-Small Cell Lung Cancer (NSCLC).

Richards CE et al.

International Journal of Molecular Sciences, 2023

37445722 (PubMed )
Supplement: ijms-24-10545-s001.zip › PTPN11_paper_supplementary_tables_25042023.pdf

Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.

Montes-Rodríguez IM et al.

Cancer Medicine, 2023

KRAS, NRAS, BRAF, HER2 and MSI Status in a Large Consecutive Series of Colorectal Carcinomas.

Martianov AS et al.

International Journal of Molecular Sciences, 2023

36902296 (PubMed )
Supplement: ijms-24-04868-s001.zip › ijms-2214519-supplementary.pdf

BRAF mutation in neuroblastoma: A rare finding.

Hutchins SC et al.

Pediatric Blood & Cancer, 2023

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.

Bhai P et al.

Frontiers in Oncology, 2023

37483495 (PubMed )
Supplement: Table_4.xlsx › All_melanoma-targeted_subpanel

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.

Kenney-Jung DL et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022

Tumor-Type Agnostic, Targeted Therapies: BRAF Inhibitors Join the Group.

Vranic S et al.

Acta Medica Academica, 2022

Ongoing progress in BRAF-mutated non-small cell lung cancer.

Abdayem P et al.

Clinical Advances in Hematology & Oncology : H&o, 2022

NGS-Based Molecular Karyotyping of Multiple Myeloma: Results from the GEM12 Clinical Trial.

Rosa-Rosa JM et al.

Cancers, 2022

36291952 (PubMed )
Supplement: cancers-14-05169-s001.zip › cancers-1947661-supplementary › Supplementary_Tables.xlsx › Supplementary_Table_S3
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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."