Gene Variant Detail

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Gene BRAF
Variant L485F
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF L485F lies within the protein kinase domain of the Braf protein (UniProt.org). L485F confers a gain of function to the Braf protein as demonstrated by increased kinase activity and activation of downstream Mek and Erk in cell culture (PMID: 16439621), increased transcription of ELK in a reporter assay (PMID: 16474404), and in one of two cell lines, L485F increased cell proliferation and cell viability compared to wild-type Braf (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF L485X BRAF L485F

BRAF mutant BRAF act mut BRAF L485F

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Transcript NM_004333.5
gDNA chr7:g.140778053C>A
cDNA c.1455G>T
Protein p.L485F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005250045 chr7:g.140778053C>A c.1455G>T p.L485F RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778053C>A c.1455G>T p.L485F RefSeq GRCh38/hg38
NM_004333 chr7:g.140778053C>A c.1455G>T p.L485F RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778053C>A c.1455G>T p.L485F RefSeq GRCh38/hg38

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  • 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 )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF L485F Advanced Solid Tumor predicted - resistant Vemurafenib Preclinical - Biochemical Actionable In a preclinical study, cells expressing BRAF L485F were resistant to treatment with Zelboraf (vemurafenib) in culture (PMID: 34108213). 34108213
BRAF L485F Advanced Solid Tumor predicted - resistant PLX8394 Preclinical - Biochemical Actionable In a preclinical study, cells expressing BRAF L485F were resistant to treatment with PLX8394 in culture (PMID: 34108213). 34108213
BRAF L485F Advanced Solid Tumor predicted - resistant Dabrafenib Preclinical - Biochemical Actionable In a preclinical study, cells expressing BRAF L485F were resistant to treatment with Tafinlar (dabrafenib) in culture (PMID: 34108213). 34108213
BRAF L485F Advanced Solid Tumor predicted - sensitive LY3009120 Preclinical - Biochemical Actionable In a preclinical study, LY3009120 treatment inhibited Erk signaling in cells expressing BRAF L485F in culture (PMID: 34108213). 34108213
BRAF L485F colorectal cancer predicted - sensitive Cetuximab + Irinotecan Case Reports/Case Series Actionable In a clinical case study, the combination of Erbitux (cetuximab) with Camptosar (irinotecan) as a third-line therapy resulted in stable disease with progression-free survival of 6.3 months in a patient with metastatic colorectal cancer harboring BRAF L485F (PMID: 31515458). 31515458