Varaico: Literature-Extracted Genetic Variants

Gene:BRAF
Variant:p.N581K
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BRAF

NM_004333.6:p.N581K

Associated Papers

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

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Lan X et al.

Jama Network Open, 2025

40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1

Long-term response to MEK inhibitor monotherapy in a patient with papillary thyroid carcinoma harboring BRAF V600E mutation.

Takano Y et al.

International Cancer Conference Journal, 2024

BRAF Mutations in Patients with Myeloid Neoplasms: A Cancer Center Multigene Next-Generation Sequencing Analysis Experience.

Fei F et al.

International Journal of Molecular Sciences, 2024

38791222 (PubMed )
Supplement: ijms-25-05183-s001.zip › ijms-3005036-Supplementary_Tables-5.10.xlsx › Supplementary_Table_3

BRAF Non-V600 Mutations in Metastatic Colorectal Cancer.

Liu J et al.

Cancers, 2023

Next generation sequencing for personalized therapy: About a class III BRAF N581K mutation associated to NRAS Q61L mutation in malignant melanoma: Case report.

Croix M et al.

Heliyon, 2023

Genomic Landscape, Clinical Features and Outcomes of Non-Small Cell Lung Cancer Patients Harboring BRAF Alterations of Distinct Functional Classes.

Di Federico A et al.

Cancers, 2022

35884534 (PubMed )
Supplement: cancers-14-03472-s001.zip › cancers-1806422-supplementary.pdf

Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

Chevrier S et al.

International Journal of Molecular Medicine, 2022

35244186 (PubMed )
Supplement: Supplementary_Data2.xlsx › Feuil1

Prevalence of class I-III BRAF mutations among 114,662 cancer patients in a large genomic database.

Owsley J et al.

Experimental Biology and Medicine (maywood, N.j.), 2021

CD274 (PD-L1) Copy Number Changes (Gain) & Response to Immune Checkpoint Blockade Therapy in Carcinomas of the Urinary Tract.

Gupta S et al.

Bladder Cancer (amsterdam, Netherlands), 2021

35071713 (PubMed )
Supplement: blc-7-blc201532-s005.xlsx › Molecular_Alterations

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

BRAF and DIS3 Mutations Associate with Adverse Outcome in a Long-term Follow-up of Patients with Multiple Myeloma.

Boyle EM et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020

Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

Clark TA et al.

The Journal of Molecular Diagnostics : Jmd, 2018

29936259 (PubMed )
Supplement: mmc12.xlsx › Table_S12

Interferon-γ Signaling in Melanocytes and Melanoma Cells Regulates Expression of CTLA-4.

Mo X et al.

Cancer Research, 2018

BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.

Lim CS et al.

Genes & Development, 2017

28404629 (PubMed )
Supplement: supp_31.6.537_Supplemental_Materials.pdf

Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

Hamblin A et al.

Plos Medicine, 2017

28196074 (PubMed )
Supplement: pmed.1002230.s004.xlsx › Melanoma

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

Sarkozy A et al.

Human Mutation, 2009

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Nava C et al.

Journal of Medical Genetics, 2007

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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."