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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 |
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_001378474.1 | chr7:g.140781613_140781615delTCTinsGAG | 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_004333 | chr7:g.140781613_140781615delAGAinsCTC | 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_004333.6 | 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 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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