Gene Variant Detail

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Gene BRAF
Variant L485_P490del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions BRAF L485_P490del results in the deletion of six amino acids within the alphaC-helix region in the protein kinase domain of the Braf protein (PMID: 26732095). L485_P490del confers a gain of function to the Braf protein as demonstrated by increased kinase activity, phosphorylation of downstream Mek and Erk, and transformation ability in cell culture (PMID: 26732095, PMID: 26996308), and is associated with resistance to vemurafenib in cell culture (PMID: 26732095).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF L485_P490del

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Transcript NM_004333.5
gDNA chr7:g.140778038_140778055del18
cDNA c.1453_1470del18
Protein p.L485_P490delLNVTAP
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140778038_140778055del18 c.1453_1470del18 p.L485_P490delLNVTAP RefSeq GRCh38/hg38
NM_004333 chr7:g.140778038_140778055del18 c.1453_1470del18 p.L485_P490delLNVTAP RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778038_140778055del18 c.1453_1470del18 p.L485_P490delLNVTAP RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140781660_140781677del18 c.1455_1472del18 p.D485_W490delDSSDDW RefSeq GRCh38/hg38
XM_017012559 chr7:g.140781660_140781677del18 c.1455_1472del18 p.D485_W490delDSSDDW RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778038_140778055del18 c.1453_1470del18 p.L485_P490delLNVTAP RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140781660_140781677del18 c.1455_1472del18 p.D485_W490delDSSDDW RefSeq GRCh38/hg38
XM_017012558 chr7:g.140781660_140781677del18 c.1455_1472del18 p.D485_W490delDSSDDW 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF L485_P490del Advanced Solid Tumor predicted - resistant Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, Zelboraf (vemurafenib) failed to inhibit phosphorylation of Mek and Erk in transformed cells expressing BRAF L485_P490del in culture (PMID: 26732095). 26732095
BRAF L485_P490del Advanced Solid Tumor predicted - sensitive LY3009120 Preclinical - Cell culture Actionable In a preclinical study, LY3009120 inhibited phosphorylation of Mek and Erk in transformed cells expressing BRAF L485_P490del in culture (PMID: 26732095). 26732095