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Gene | BRAF |
Variant | G469K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF G469K is a hotspot mutation within the protein kinase domain of the Braf protein (UniProt.org). G469K has been identified in the scientific literature (PMID: 29325942, PMID: 30348504, PMID: 31015314), but has not been biochemically characterized, and therefore, its effect on Braf protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF G469X BRAF G469K |
Transcript | NM_004333.6 |
gDNA | chr7:g.140781602_140781603delGGinsAA |
cDNA | c.1405_1406delGGinsAA |
Protein | p.G469K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378474.1 | chr7:g.140781602_140781603delGGinsAA | c.1405_1406delGGinsAA | p.G469K | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140781602_140781603delGGinsAA | c.1405_1406delGGinsAA | p.G469K | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140781602_140781603delGGinsAA | c.1405_1406delGGinsAA | p.G469K | RefSeq | GRCh38/hg38 |
NM_001378470.1 | chr7:g.140778000_140778001delGGinsAA | c.1405_1406delGGinsAA | p.G469K | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140781602_140781603delGGinsAA | c.1405_1406delGGinsAA | p.G469K | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140781602_140781603delGGinsAA | c.1405_1406delGGinsAA | p.G469K | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140781602_140781603delGGinsAA | c.1405_1406delGGinsAA | p.G469K | RefSeq | GRCh38/hg38 |
NM_001378467.1 | chr7:g.140781611_140781612delGGinsAA | c.1405_1406delGGinsAA | p.G469K | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140781602_140781603delGGinsAA | c.1405_1406delGGinsAA | p.G469K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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