Gene Variant Detail

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Gene BRAF
Variant S605A
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF S605A lies within the protein kinase domain of the Braf protein (UniProt.org). S605A 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 S605A

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Transcript NM_004333.6
gDNA chr7:g.140753321_140753322delAGinsGC
cDNA c.1813_1814delAGinsGC
Protein p.S605A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378474.1 chr7:g.140753321_140753322delAGinsGC c.1813_1814delAGinsGC p.S605A RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140749310A>C c.1813T>G p.S605A RefSeq GRCh38/hg38
NM_004333 chr7:g.140753321_140753322delCTinsGC c.1813_1814delAGinsGC p.S605A RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753321_140753322delAGinsGC c.1813_1814delAGinsGC p.S605A RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753321_140753322delAGinsGC c.1813_1814delAGinsGC p.S605A RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749310A>C c.1813T>G p.S605A RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753321_140753322delAGinsGC c.1813_1814delAGinsGC p.S605A RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753321_140753322delCTinsGC c.1813_1814delAGinsGC p.S605A RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753321_140753322delAGinsGC c.1813_1814delAGinsGC p.S605A RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753321_140753322delAGinsGC c.1813_1814delAGinsGC p.S605A RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140753331A>C c.1813T>G p.S605A RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries