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BRAF V47_G393del - Gene Variant Detail

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Gene BRAF
Variant V47_G393del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF V47_G393del results in the deletion of 347 amino acids of the Braf protein from amino acids 47 to 393 (UniProt.org). V47_G393del (reported as internal deletion of exons 2-9) has not been characterized, however, due to the deletion of the CR1 autoinhibitory domain and preservation of the protein kinase domain (PMID: 23890088, PMID: 22113612, PMID: 29171936), is predicted to lead to a gain of Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF V47_G393del

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Transcript NM_004333.6
gDNA chr7:g.140783156_140850212del67057
cDNA c.139_1179del67057
Protein p.V47_G393del347
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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")

Sorting

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