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Gene BRAF
Variant L505H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF L505H lies within the protein kinase domain of the Braf protein (UniProt.org). L505H confers a gain of function to the Braf protein resulting in MEK/ERK activation and oncogenic transformation in cultured cells, and is associated with resistance to RAF inhibitors (PMID: 24283590).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF L505H

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Transcript NM_004333.6
gDNA chr7:g.140777994A>T
cDNA c.1514T>A
Protein p.L505H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
XM_005250045 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries