Gene Variant Detail

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Gene BRAF
Variant L505F
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF L505F lies within the protein kinase domain of the Braf protein (UniProt.org). L505F confers a gain of function to the Braf protein as demonstrated by dimer-independent constitutive Erk activation in cell culture (PMID: 23993095, PMID: 25348715).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF L505F

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Transcript NM_004333.6
gDNA chr7:g.140777995G>A
cDNA c.1513C>T
Protein p.L505F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140777995G>A c.1513C>T p.L505F RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140777995G>A c.1513C>T p.L505F RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140777995G>A c.1513C>T p.L505F RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140777995G>A c.1513C>T p.L505F RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140777995G>A c.1513C>T p.L505F RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140777995G>A c.1513C>T p.L505F RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140777995G>A c.1513C>T p.L505F RefSeq GRCh38/hg38

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References