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BRAF V47_D380del - Gene Variant Detail

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Gene BRAF
Variant V47_D380del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF V47_D380del results in the deletion of 334 amino acids of the Braf protein from amino acids 47 to 380 (UniProt.org). V47_D380del (reported as internal deletion of exons 2-8) has been associated with resistance to Mek inhibitors in a patient (PMID: 29171936), and is predicted to lead to a gain of Braf protein function due to the deletion of the CR1 autoinhibitory domain and preservation of the protein kinase domain (PMID: 23890088, PMID: 22113612).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF V47_D380del

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Transcript NM_004333.6
gDNA chr7:g.140794308_140850212del55905
cDNA c.141_1140+2del55905
Protein p.V47_D380del334
Source Database RefSeq
Genome Build GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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