Gene Variant Detail

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Gene BRAF
Variant N581S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF N581S lies within the protein kinase domain of the Braf protein (UniProt.org). N581S has been identified as a secondary resistance mutation (PMID: 32553555), and results in intermediate Braf kinase activity (PMID: 15035987) as well as low Braf kinase activity (PMID: 28783719), and results in Ras-dependent activation of Erk signaling in cell culture (PMID: 28783719), however in another study, demonstrates increased transformation ability in one of two different cell lines compared to wild-type Braf (PMID: 29533785), and therefore, its effect on Braf protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF N581X BRAF N581S

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Transcript NM_004333.6
gDNA chr7:g.140753393T>C
cDNA c.1742A>G
Protein p.N581S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140753393T>C c.1742A>G p.N581S RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753393T>C c.1742A>G p.N581S RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753393T>C c.1742A>G p.N581S RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753393T>C c.1742A>G p.N581S RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753393T>C c.1742A>G p.N581S RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753393T>C c.1742A>G p.N581S RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753393T>C c.1742A>G p.N581S RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753393T>C c.1742A>G p.N581S RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries