Varaico: Literature-Extracted Genetic Variants

Gene:BRAF
Variant:p.F595L
Back to variants list

BRAF

NM_004333.6:p.F595L

Associated Papers

Current opinions on Noonan syndrome and RASopathies.

Weaver KN et al.

Current Opinion in Pediatrics, 2026

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.

Gulrajani NB et al.

Prenatal Diagnosis, 2025

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
1–50 of 173 papers
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."