Gene Variant Detail

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Gene BRAF
Variant F595L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BRAF F595L lies within the protein kinase domain of the Braf protein (UniProt.org). F595L results in reduced Braf kinase activity (PMID: 28783719, PMID: 15035987), but works cooperatively with oncogenic Ras to activate MEK/ERK signaling, and is transforming in cell culture (PMID: 15035987, PMID: 26582644, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF F595X BRAF F595L

BRAF mutant BRAF inact mut BRAF F595L

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Transcript NM_004333.5
gDNA chr7:g.140753352A>G
cDNA c.1783T>C
Protein p.F595L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140753352A>G c.1783T>C p.F595L RefSeq GRCh38/hg38
NM_004333 chr7:g.140753352A>G c.1783T>C p.F595L RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753352A>G c.1783T>C p.F595L RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753352A>G c.1783T>C p.F595L RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF F595L Advanced Solid Tumor resistant Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, treatment with Zelboraf (vemurafenib) did not reduce activation of Mek and Erk by BRAF F595L in transformed cells in culture (PMID: 26582644). 26582644
BRAF F595L colorectal cancer predicted - sensitive Fluorouracil + Leucovorin + Oxaliplatin + Panitumumab Case Reports/Case Series Actionable In a clinical case study, the combination of Vectibix (panitumumab) with FOLFOX as a first-line therapy resulted in a partial response with progression-free survival of 10.2 months in a patient with metastatic colorectal cancer harboring BRAF F595L (PMID: 31515458). 31515458