BRAF Y472C
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 a more open Braf conformation (PMID: 33229534) and impaired Braf kinase activity, but paradoxically increases Mek and Erk signaling through CRAF transactivation (PMID: 22649091); however in two different cell lines, Y472C induces similar cell proliferation and cell viability 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
XM_005250045 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
NM_001378474.1 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_001354609.2 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_001354609.1 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_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