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Gene | BRAF |
Variant | S602A |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRAF S602A lies within the protein kinase domain of the Braf protein (UniProt.org). S602A (reported as S601A) retains binding to 14-3-3, Hsp90, and Mek, but results in reduced kinase activity in response to stimuli in cultured cells (PMID: 11032810), 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 S602A |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753331A>C |
cDNA | c.1804T>G |
Protein | p.S602A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378474.1 | chr7:g.140753331A>C | c.1804T>G | p.S602A | RefSeq | GRCh38/hg38 |
XM_047420766.1 | chr7:g.140753295A>C | c.1804T>G | p.S602A | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753331A>C | c.1804T>G | p.S602A | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140753331A>C | c.1804T>G | p.S602A | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753331A>C | c.1804T>G | p.S602A | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753331A>C | c.1804T>G | p.S602A | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753331A>C | c.1804T>G | p.S602A | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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