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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 select RAF inhibitor 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_004333.6
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_001354609.2 chr7:g.140778038_140778055del18 c.1453_1470del18 p.L485_P490delLNVTAP RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140777025_140777042del18 c.1453_1470del18 p.K485_I490delKPQLAI RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140777070_140777087del18 c.1454_1471del18 p.K485_N490delKTRHVN RefSeq GRCh38/hg38
XM_017012558 chr7:g.140781660_140781677del18 c.1455_1472del18 p.D485_W490delDSSDDW RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140781660_140781677del18 c.1455_1472del18 p.D485_W490delDSSDDW RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140777034_140777051del18 c.1453_1470del18 p.Y485_Q490delYSTKPQ RefSeq GRCh38/hg38
XM_047420769.1 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
NM_001374244.1 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
NM_001378475.1 chr7:g.140754194_140754211del18 c.1454_1471del18 p.I485_K490delIHRDLK RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140781660_140781677del18 c.1455_1472del18 p.D485_W490delDSSDDW RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140781660_140781677del18 c.1455_1472del18 p.D485_W490delDSSDDW RefSeq GRCh38/hg38
XM_047420770.1 chr7:g.140734716_140734733del18 c.1453_1470del18 p.K485_A490delKIHRSA RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140778047_140778064del18 c.1453_1470del18 p.V485_V490delVKMLNV RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778038_140778055del18 c.1453_1470del18 p.L485_P490delLNVTAP RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140781660_140781677del18 c.1455_1472del18 p.D485_W490delDSSDDW RefSeq GRCh38/hg38
XM_017012558.1 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
NM_004333 chr7:g.140778038_140778055del18 c.1453_1470del18 p.L485_P490delLNVTAP RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140776980_140776997del18 c.1453_1470del18 p.L485_H490delLYHHLH RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778038_140778055del18 c.1453_1470del18 p.L485_P490delLNVTAP RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140778003_140778020del18 c.1454_1471del18 p.A485_V490delAFKNEV RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140776980_140776997del18 c.1453_1470del18 p.L485_H490delLYHHLH RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778038_140778055del18 c.1453_1470del18 p.L485_P490delLNVTAP RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778038_140778055del18 c.1453_1470del18 p.L485_P490delLNVTAP RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140781660_140781677del18 c.1455_1472del18 p.D485_W490delDSSDDW 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
BRAF L485_P490del gain of function MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor