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Gene BRAF
Variant G469S
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF G469S is a hotspot mutation within the protein kinase domain of the Braf protein (UniProt.org). G469S results in increased Erk phosphorylation (PMID: 27478040) and induces increased cell proliferation and cell viability compared to wild-type Braf in culture (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF G469S

BRAF mutant BRAF G469X BRAF G469S

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Transcript NM_004333.6
gDNA chr7:g.140781601_140781603delGGAinsAGC
cDNA c.1405_1407delGGAinsAGC
Protein p.G469S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005250045 chr7:g.140781601_140781603delTCCinsGCT c.1405_1407delGGAinsAGC p.G469S RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140781601_140781603delGGAinsAGC c.1405_1407delGGAinsAGC p.G469S RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140777999_140778001delGGAinsAGC c.1405_1407delGGAinsAGC p.G469S RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781601_140781603delGGAinsAGC c.1405_1407delGGAinsAGC p.G469S RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140781601_140781603delGGAinsAGC c.1405_1407delGGAinsAGC p.G469S RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781601_140781603delGGAinsAGC c.1405_1407delGGAinsAGC p.G469S RefSeq GRCh38/hg38
NM_004333 chr7:g.140781601_140781603delTCCinsGCT c.1405_1407delGGAinsAGC p.G469S RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140781601_140781603delGGAinsAGC c.1405_1407delGGAinsAGC p.G469S RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140781601_140781603delGGAinsAGC c.1405_1407delGGAinsAGC p.G469S RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140781610_140781612delGGAinsAGC c.1405_1407delGGAinsAGC p.G469S RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140781601_140781603delGGAinsAGC c.1405_1407delGGAinsAGC p.G469S RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries