BRAF V600 Protein Variation

Known as: BRAF p.V600 Mutation, BRAF NP_004324.2:p.Val600Xxx, NP_004324.2:p.V600X 
A change in the valine at position 600 of the serine/threonine-protein kinase B-raf protein to another amino acid.
National Institutes of Health

Papers overview

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Highly Cited
2014
Highly Cited
2014
CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
Neurodegenerative diseases can occur so early as to affect neurodevelopment. From a cohort of more than 2,000 consanguineous… (More)
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2012
2012
Knock-in of a FLT3/ITD mutation cooperates with a NUP98-HOXD13 fusion to generate acute myeloid leukemia in a mouse model.
Constitutive activation of FLT3 by internal tandem duplication (ITD) is one of the most common molecular alterations in acute… (More)
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2009
2009
Evaluation of high-resolution melting analysis as a diagnostic tool to detect the BRAF V600E mutation in colorectal tumors.
BRAF V600E is the predominantly occurring mutation of the cytoplasmic kinase BRAF, and, in colorectal cancer, its determination… (More)
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Highly Cited
2006
Highly Cited
2006
High-level resistance to moxifloxacin and gatifloxacin associated with a novel mutation in gyrB in toxin-A-negative, toxin-B-positive Clostridium difficile.
OBJECTIVES To determine the mechanism of high-level resistance to fluoroquinolone antimicrobials in toxin-A-negative, toxin-B… (More)
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Highly Cited
2006
Highly Cited
2006
Influence of the BRAF V600E mutation on expression of vascular endothelial growth factor in papillary thyroid cancer.
CONTEXT The BRAF mutation may influence the expression patterns of molecular markers that are related to the development and… (More)
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Highly Cited
2004
Highly Cited
2004
BRAF alterations are associated with complex mutational profiles in malignant melanoma
To evaluate the mutational profiles associated with BRAF mutations in human melanoma, we have studied BRAF, RAS, PTEN, TP53… (More)
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Highly Cited
2004
Highly Cited
2004
A novel intronic mutation, 2988G>A, with high predictivity for impaired function of cytochrome P450 2D6 in white subjects.
BACKGROUND Individuals with the cytochrome P450 (CYP) 2D6 intermediate metabolizer (IM) phenotype have low residual enzyme… (More)
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Highly Cited
2002
Highly Cited
2002
Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration.
The canine disease, X-linked progressive retinal atrophy (XLPRA), is similar to human RP3, an X-linked form of retinitis… (More)
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Highly Cited
2002
Highly Cited
2002
Rates and patterns of molecular evolution in inbred and outbred Arabidopsis.
The evolution of self-fertilization is associated with a large reduction in the effective rate of recombination and a… (More)
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1999
1999
Ambient pH signal transduction in Aspergillus: completion of gene characterization.
Completing the molecular analysis of the six pal genes of the ambient pH signal transduction pathway in Aspergillus nidulans, we… (More)
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