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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 |
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_001378472.1 | chr7:g.140749310A>C | c.1813T>G | p.S605A | RefSeq | GRCh38/hg38 |
NM_001378467.1 | chr7:g.140753331A>C | c.1813T>G | p.S605A | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140753321_140753322delCTinsGC | c.1813_1814delAGinsGC | p.S605A | RefSeq | GRCh38/hg38 |
NM_001354609.2 | 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_001378468.1 | 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_004333.6 | 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_004333.5 | chr7:g.140753321_140753322delAGinsGC | c.1813_1814delAGinsGC | p.S605A | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753321_140753322delAGinsGC | c.1813_1814delAGinsGC | p.S605A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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