Gene Variant Detail

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Gene BRAF
Variant F247L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF F247L lies within the phorbol-ester/DAG-type zinc finger domain of the Braf protein (UniProt.org). F247L confers a gain of function to Braf, as indicated by activation of downstream MAPK signaling and is transforming in cultured cells (PMID: 28512244, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF F247L

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Transcript NM_004333.6
gDNA chr7:g.140801533A>G
cDNA c.739T>C
Protein p.F247L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017012558.1 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
XM_017012558 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
XM_017012559 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
NM_004333 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
XM_005250045 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140801533A>G c.739T>C p.F247L RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140801533A>G c.739T>C p.F247L 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 )
  • 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF F247L Advanced Solid Tumor sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing BRAF F247L demonstrated sensitivity to Mekinist (trametinib) in culture (PMID: 28512244). 28512244
BRAF F247L Advanced Solid Tumor sensitive Dabrafenib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing BRAF F247L demonstrated sensitivity to Tafinlar (dabrafenib) in culture (PMID: 28512244). 28512244
BRAF F247L colorectal cancer not predictive Cetuximab + Fluorouracil + Irinotecan + Leucovorin Case Reports/Case Series Actionable In a clinical study, the combination of Erbitux (cetuximab) with FOLFIRI as a third-line therapy resulted in a complete response with regression of the thoracic nodes and progression-free survival lasting 12.6 months in a patient with metastatic colorectal cancer harboring BRAF F247L (PMID: 31515458). 31515458