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Gene | BRAF |
Variant | G469del |
Impact List | deletion |
Protein Effect | loss of function |
Gene Variant Descriptions | BRAF G469del results in the deletion of an amino acid in the protein kinase domain of the Braf protein at amino acid 469 (UniProt.org). G469del demonstrates decreased Braf kinase activity, does not activate downstream ERK, and is minimally transforming in cell culture (PMID: 23833300). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF inact mut BRAF G469del |
Transcript | NM_004333.6 |
gDNA | chr7:g.140781601_140781603delTCC |
cDNA | c.1405_1407delGGA |
Protein | p.G469delG |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378475.1 | chr7:g.140776935_140776937delTGC | c.1405_1407delGCA | p.A469delA | RefSeq | GRCh38/hg38 |
XM_047420766.1 | chr7:g.140778065_140778067delTGC | c.1406_1408delCAG | p.A469delA | RefSeq | GRCh38/hg38 |
NM_001378471.1 | chr7:g.140777088_140777992del905 | c.1406_1408del905 | p.R469delR | RefSeq | GRCh38/hg38 |
NM_001374244.1 | chr7:g.140783048_140783050delAGA | c.1407_1409delTTC | p.S472delS | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140781601_140781603delTCC | c.1405_1407delGGA | p.G469delG | RefSeq | GRCh38/hg38 |
XM_047420768.1 | chr7:g.140783048_140783050delAGA | c.1407_1409delTTC | p.S472delS | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140781601_140781603delTCC | c.1405_1407delGGA | p.G469delG | RefSeq | GRCh38/hg38 |
XM_047420767.1 | chr7:g.140783048_140783050delAGA | c.1407_1409delTTC | p.S472delS | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140781601_140781603delTCC | c.1405_1407delGGA | p.G469delG | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140781601_140781603delTCC | c.1405_1407delGGA | p.G469delG | RefSeq | GRCh38/hg38 |
XM_017012559.1 | chr7:g.140783048_140783050delAGA | c.1407_1409delTTC | p.S472delS | RefSeq | GRCh38/hg38 |
NM_001378469.1 | chr7:g.140778035_140778037delTGT | c.1405_1407delACA | p.T469delT | RefSeq | GRCh38/hg38 |
XM_017012559.2 | chr7:g.140783048_140783050delAGA | c.1407_1409delTTC | p.S472delS | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140781601_140781603delTCC | c.1405_1407delGGA | p.G469delG | RefSeq | GRCh38/hg38 |
XM_017012559 | chr7:g.140783048_140783050delAGA | c.1407_1409delTTC | p.S472delS | RefSeq | GRCh38/hg38 |
NM_001374258.1 | chr7:g.140783048_140783050delAGA | c.1407_1409delTTC | p.S472delS | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140781601_140781603delTCC | c.1405_1407delGGA | p.G469delG | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140781601_140781603delTCC | c.1405_1407delGGA | p.G469delG | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140781601_140781603delTCC | c.1405_1407delGGA | p.G469delG | RefSeq | GRCh38/hg38 |
XM_017012558.1 | chr7:g.140783048_140783050delAGA | c.1407_1409delTTC | p.S472delS | RefSeq | GRCh38/hg38 |
NM_001378467.1 | chr7:g.140781610_140781612delTCC | c.1405_1407delGGA | p.G469delG | RefSeq | GRCh38/hg38 |
XM_017012558 | chr7:g.140783048_140783050delAGA | c.1407_1409delTTC | p.S472delS | RefSeq | GRCh38/hg38 |
NM_001378470.1 | chr7:g.140778000_140778002delCCT | c.1406_1408delGAG | p.G469delG | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140781601_140781603delTCC | c.1405_1407delGGA | p.G469delG | RefSeq | GRCh38/hg38 |
XM_047420770.1 | chr7:g.140739818_140739820delAAA | c.1405_1407delTTT | p.F469delF | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140777043_140777045delTGT | c.1406_1408delCAA | p.T469delT | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140777043_140777045delTGT | c.1406_1408delCAA | p.T469delT | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BRAF G469del | loss of function |