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Gene | BRAF |
Variant | G469A |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF G469A is a hotspot mutation within the protein kinase domain of the Braf protein (UniProt.org). G469A results in increased Braf kinase activity and downstream activation of Erk, and is transforming in cell culture (PMID: 19010912, PMID: 12068308, PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF G469A BRAF mutant BRAF G469X BRAF G469A |
Transcript | NM_004333.6 |
gDNA | chr7:g.140781602C>G |
cDNA | c.1406G>C |
Protein | p.G469A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004333.5 | chr7:g.140781602C>G | c.1406G>C | p.G469A | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140781602C>G | c.1406G>C | p.G469A | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140781602C>G | c.1406G>C | p.G469A | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140781602C>G | c.1406G>C | p.G469A | RefSeq | GRCh38/hg38 |
NM_001378470.1 | chr7:g.140778000C>G | c.1406G>C | p.G469A | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140781602C>G | c.1406G>C | p.G469A | RefSeq | GRCh38/hg38 |
NM_001378467.1 | chr7:g.140781611C>G | c.1406G>C | p.G469A | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140781602C>G | c.1406G>C | p.G469A | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140781602C>G | c.1406G>C | p.G469A | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140781602C>G | c.1406G>C | p.G469A | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140781602C>G | c.1406G>C | p.G469A | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BRAF G469A | gain of function | MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor |
BRAF G469A BRAF L584P | ||
BRAF G469A BRAF W604C | ||
BRAF G469A CBL C404Y FLT3 exon 14 ins FLT3 D835X |