Gene Variant Detail

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Gene BRAF
Variant Y472C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF Y472C lies within the protein kinase domain of the Braf protein (UniProt.org). Y472C results in impaired Braf kinase activity, but paradoxically increases Mek and Erk signaling through C-raf transactivation (PMID: 22649091), however in two different cell lines, Y472C induces similar cell proliferation and cell viability as compared to wild-type Braf (PMID: 29533785), and therefore, its effect on Braf protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF Y472C

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Transcript NM_004333.6
gDNA chr7:g.140781593T>C
cDNA c.1415A>G
Protein p.Y472C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140781593T>C c.1415A>G p.Y472C RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140781593T>C c.1415A>G p.Y472C RefSeq GRCh38/hg38
NM_004333 chr7:g.140781593T>C c.1415A>G p.Y472C RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140781593T>C c.1415A>G p.Y472C RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781593T>C c.1415A>G p.Y472C RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140781593T>C c.1415A>G p.Y472C RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140781593T>C c.1415A>G p.Y472C RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781593T>C c.1415A>G p.Y472C RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781593T>C c.1415A>G p.Y472C 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF Y472C lung non-small cell carcinoma sensitive Dasatinib Preclinical - Cell culture Actionable In a preclinical study, Sprycel (dasatinib) induced apoptosis in non-small cell lung carcinoma cells harboring BRAF Y472C in culture (PMID: 22649091). 22649091