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Gene | BRAF |
Variant | F468C |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF F468C (also referred to as F467C) lies within the protein kinase domain of the Braf protein (UniProt.org). F468C confers a gain of function to the Braf protein as demonstrated by increased Braf kinase activity and downstream Erk phosphorylation, activation of NFkappaB signaling in reporter assays, and transformation of cultured cells (PMID: 15150094). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF F468C |
Transcript | NM_004333.6 |
gDNA | chr7:g.140781605A>C |
cDNA | c.1403T>G |
Protein | p.F468C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378468.1 | chr7:g.140781605A>C | c.1403T>G | p.F468C | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140781605A>C | c.1403T>G | p.F468C | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140781605A>C | c.1403T>G | p.F468C | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140781605A>C | c.1403T>G | p.F468C | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140781605A>C | c.1403T>G | p.F468C | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140781605A>C | c.1403T>G | p.F468C | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140781605A>C | c.1403T>G | p.F468C | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140781605A>C | c.1403T>G | p.F468C | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140781605A>C | c.1403T>G | p.F468C | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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