Gene Variant Detail

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Gene BRAF
Variant L485S
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF L485S lies within the protein kinase domain of the Braf protein (UniProt.org). L485S is predicted to confer a gain of function to Braf as indicated by increased kinase activity in an in vitro assay (PMID: 18413255), and has been demonstrated to confer Braf inhibitor resistance in cell culture (PMID: 31925410).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF L485S

BRAF mutant BRAF L485X BRAF L485S

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Transcript NM_004333.6
gDNA chr7:g.140778054A>G
cDNA c.1454T>C
Protein p.L485S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005250045 chr7:g.140778054A>G c.1454T>C p.L485S RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778054A>G c.1454T>C p.L485S RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778054A>G c.1454T>C p.L485S RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778054A>G c.1454T>C p.L485S RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140776996A>G c.1454T>C p.L485S RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778054A>G c.1454T>C p.L485S RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778054A>G c.1454T>C p.L485S RefSeq GRCh38/hg38
NM_004333 chr7:g.140778054A>G c.1454T>C p.L485S RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778054A>G c.1454T>C p.L485S RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140776996A>G c.1454T>C p.L485S RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778054A>G c.1454T>C p.L485S RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
BRAF L485S gain of function - predicted
BRAF L485S BRAF V600E