Gene Variant Detail

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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
NM_001378468.1 chr7:g.140781601_140781603delGGAinsAGC c.1405_1407delGGAinsAGC p.G469S RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781601_140781603delGGAinsAGC c.1405_1407delGGAinsAGC p.G469S RefSeq GRCh38/hg38
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_001354609.2 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_001378467.1 chr7:g.140781610_140781612delGGAinsAGC 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_001378470.1 chr7:g.140777999_140778001delGGAinsAGC 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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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF G469S melanoma predicted - sensitive Dabrafenib + Trametinib Case Reports/Case Series Actionable In a clinical case study, Mekinist (trametinib) and Tafinlar (dabrafenib) combination treatment resulted in symptom improvement, reduced lymph node size, and decreased LDH levels in a patient with metastatic melanoma harboring BRAF G469S, with progression observed after three months (PMID: 31569065). 31569065
BRAF G469S melanoma predicted - sensitive Binimetinib + Encorafenib Case Reports/Case Series Actionable In a Phase II trial (BEAVER), Mektovi (binimetinib) and Braftovi (encorafenib) combination therapy resulted in an unconfirmed partial response in a patient with melanoma harboring BRAF G469S (Annals of Oncology 32 (2021): S596; NCT03839342). detail...