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Gene BRAF
Variant L485F
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF L485F lies within the protein kinase domain of the Braf protein (UniProt.org). L485F confers a gain of function to the Braf protein as demonstrated by increased kinase activity and activation of downstream Mek and Erk in cell culture (PMID: 16439621), increased transcription of ELK in a reporter assay (PMID: 16474404), and in one of two cell lines, L485F increased cell proliferation and cell viability compared to wild-type Braf (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF L485F

BRAF mutant BRAF L485X BRAF L485F

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Transcript NM_004333.6
gDNA chr7:g.140778053C>A
cDNA c.1455G>T
Protein p.L485F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378472.1 chr7:g.140776995C>A c.1455G>T p.L485F RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778053C>A c.1455G>T p.L485F RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778053C>A c.1455G>T p.L485F RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778053C>A c.1455G>T p.L485F RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778053C>A c.1455G>T p.L485F RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778053C>A c.1455G>T p.L485F RefSeq GRCh38/hg38
NM_004333 chr7:g.140778053C>A c.1455G>T p.L485F RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140776995C>A c.1455G>T p.L485F RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778053C>A c.1455G>T p.L485F RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778053C>A c.1455G>T p.L485F RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778053C>A c.1455G>T p.L485F RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries