Varaico: Literature-Extracted Genetic Variants

Gene:BRAF
Variant:p.K601I
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BRAF

NM_004333.6:p.K601I

Associated Papers

Routine sequencing of BRAF exon 15 improves therapeutic stratification for metastatic melanoma.

Chen YF et al.

American Journal of Clinical Pathology, 2025

Frequency of targetable genetic alterations in resectable lung adenocarcinoma: Results from the LORD project.

Bossé Y et al.

Lung Cancer (amsterdam, Netherlands), 2025

Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.

Serbinski CR et al.

American Journal of Medical Genetics. Part A, 2024

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

Ou Y et al.

Frontiers in Pediatrics, 2024

BRAFV600E;K601Q metastatic melanoma patient-derived organoids and docking analysis to predict the response to targeted therapy.

Porcelli L et al.

Pharmacological Research, 2022

Craniosynostosis is a feature of Costello syndrome.

Weaver KN et al.

American Journal of Medical Genetics. Part A, 2022

Acetylation-dependent regulation of BRAF oncogenic function.

Dai X et al.

Cell Reports, 2022

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

High sensitivity sanger sequencing detection of BRAF mutations in metastatic melanoma FFPE tissue specimens.

Cheng LY et al.

Scientific Reports, 2021

33907234 (PubMed )
Supplement: 41598_2021_88391_MOESM1_ESM.pdf

Mutation and Phenotypic Spectrum of Patients With RASopathies.

Lallar M et al.

Indian Pediatrics, 2021

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

Negative reactions of BRAF mutation-specific immunohistochemistry to non-V600E mutations of BRAF.

Seto K et al.

Pathology International, 2020

A Rare Complex BRAF Mutation Involving Codon V600 and K601 in Primary Cutaneous Melanoma: Case Report.

Consoli F et al.

Frontiers in Oncology, 2020

Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Manca A et al.

Journal of Translational Medicine, 2019

31455347 (PubMed )
Supplement: 12967_2019_2039_MOESM1_ESM.xlsx › Discovery_cohort_nsyn_variants

Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.

Casula M et al.

Bmc Cancer, 2019

VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia.

Iourov IY et al.

Molecular Cytogenetics, 2018

30603047 (PubMed )
Supplement: 13039_2018_412_MOESM1_ESM.pdf

Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

Ueda K et al.

American Journal of Medical Genetics. Part A, 2017

Variables that influence BRAF mutation probability: A next-generation sequencing, non-interventional investigation of BRAFV600 mutation status in melanoma.

Gaiser MR et al.

Plos One, 2017

Using "residual" FNA rinse and body fluid specimens for next-generation sequencing: An institutional experience.

Wei S et al.

Cancer Cytopathology, 2016

Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia.

Kuentz P et al.

The Journal of Investigative Dermatology, 2016

Association of BRAF V600E Mutation and MicroRNA Expression with Central Lymph Node Metastases in Papillary Thyroid Cancer: A Prospective Study from Four Endocrine Surgery Centers.

Han PA et al.

Thyroid : Official Journal of the American Thyroid Association, 2016

The yin-yang of kinase activation and unfolding explains the peculiarity of Val600 in the activation segment of BRAF.

Kiel C et al.

Elife, 2016

26744778 (PubMed )
Supplement: elife-12814-supp1.xlsx › input_random_forest

Clinical characteristics and outcome of patients with lung cancer harboring BRAF mutations.

Tissot C et al.

Lung Cancer (amsterdam, Netherlands), 2016

Bioinformatics Approach for Prediction of Functional Coding/Noncoding Simple Polymorphisms (SNPs/Indels) in Human BRAF Gene.

Hassan MM et al.

Advances in Bioinformatics, 2016

Tumor cellularity as a quality assurance measure for accurate clinical detection of BRAF mutations in melanoma.

Dudley JC et al.

Molecular Diagnosis & Therapy, 2014

BRAF pyrosequencing analysis aided by a lookup table.

Olson MT et al.

American Journal of Clinical Pathology, 2014

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.

Lepri FR et al.

Bmc Medical Genetics, 2014

Does BRAF V600E mutation predict aggressive features in papillary thyroid cancer? Results from four endocrine surgery centers.

Li C et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

Automated universal BRAF state detection within the activation segment in skin metastases by pyrosequencing-based assay U-BRAF(V600).

Skorokhod A et al.

Plos One, 2013

Low prevalence of RAS-RAF-activating mutations in Spitz melanocytic nevi compared with other melanocytic lesions.

Indsto JO et al.

Journal of Cutaneous Pathology, 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."