Gene Variant Detail

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Gene BRAF
Variant S605E
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF S605E lies within the protein kinase domain of the Braf protein (UniProt.org). S605E results in basal Mek phosphorylation similar to wild-type Braf but moderately 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 S605E

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Transcript NM_004333.6
gDNA chr7:g.140753320_140753322delAGTinsGAG
cDNA c.1813_1815delAGTinsGAG
Protein p.S605E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378474.1 chr7:g.140753320_140753322delAGTinsGAG c.1813_1815delAGTinsGAG p.S605E RefSeq GRCh38/hg38
NM_004333 chr7:g.140753320_140753322delACTinsCTC c.1813_1815delAGTinsGAG p.S605E RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140753329_140753331delTCTinsGAG c.1813_1815delTCTinsGAG p.S605E RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140749309_140749310delTCinsGA c.1813_1814delTCinsGA p.S605E RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753320_140753322delAGTinsGAG c.1813_1815delAGTinsGAG p.S605E RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753320_140753322delAGTinsGAG c.1813_1815delAGTinsGAG p.S605E RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753320_140753322delAGTinsGAG c.1813_1815delAGTinsGAG p.S605E RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753320_140753322delACTinsCTC c.1813_1815delAGTinsGAG p.S605E RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749309_140749310delTCinsGA c.1813_1814delTCinsGA p.S605E RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753320_140753322delAGTinsGAG c.1813_1815delAGTinsGAG p.S605E RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753320_140753322delAGTinsGAG c.1813_1815delAGTinsGAG p.S605E RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries