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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 |
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_001378468.1 | 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_001354609.2 | 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 |
NM_004333.6 | chr7:g.140777995G>A | c.1513C>T | p.L505F | RefSeq | GRCh38/hg38 |
NM_004333.5 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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