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Gene | BRAF |
Variant | R462I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF R462I lies within the protein kinase domain of the Braf protein (UniProt.org). R462I results in activation of Braf and increased Erk signaling in cell culture (PMID: 15035987), but induced cell proliferation and cell viability similar to wild-type Braf in two different cell lines in culture (PMID: 29533785), and therefore, its effect on Braf protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF R462X BRAF R462I |
Transcript | NM_004333.6 |
gDNA | chr7:g.140781623C>A |
cDNA | c.1385G>T |
Protein | p.R462I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354609.2 | chr7:g.140781623C>A | c.1385G>T | p.R462I | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140781623C>A | c.1385G>T | p.R462I | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140781623C>A | c.1385G>T | p.R462I | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140781623C>A | c.1385G>T | p.R462I | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140781623C>A | c.1385G>T | p.R462I | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140781623C>A | c.1385G>T | p.R462I | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140781623C>A | c.1385G>T | p.R462I | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140781623C>A | c.1385G>T | p.R462I | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140781623C>A | c.1385G>T | p.R462I | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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