Gene Variant Detail

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Gene BRAF
Variant S465E
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF S465E lies within the protein kinase domain of the Braf protein (UniProt.org). S465E results in basal Mek phosphorylation similar to wild-type Braf but decreased Mek phosphorylation upon Ras activation in culture (PMID: 27034005), and therefore, is predicted to lead to a loss of Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF inact mut BRAF S465E

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Transcript NM_004333.6
gDNA chr7:g.140781613_140781615delTCTinsGAG
cDNA c.1393_1395delTCTinsGAG
Protein p.S465E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.1 chr7:g.140781613_140781615delTCTinsGAG c.1393_1395delTCTinsGAG p.S465E RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140781613_140781615delTCTinsGAG c.1393_1395delTCTinsGAG p.S465E RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140781613_140781615delTCTinsGAG c.1393_1395delTCTinsGAG p.S465E RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781613_140781615delAGAinsCTC c.1393_1395delTCTinsGAG p.S465E RefSeq GRCh38/hg38
NM_004333 chr7:g.140781613_140781615delAGAinsCTC c.1393_1395delTCTinsGAG p.S465E RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781613_140781615delTCTinsGAG c.1393_1395delTCTinsGAG p.S465E RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781613_140781615delTCTinsGAG c.1393_1395delTCTinsGAG p.S465E RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140781613_140781615delTCTinsGAG c.1393_1395delTCTinsGAG p.S465E RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140781613_140781615delTCTinsGAG c.1393_1395delTCTinsGAG p.S465E RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References