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Gene BRAF
Variant N486_P490del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions BRAF N486_P490del results in the deletion of five amino acids within the alphaC-helix region in the protein kinase domain of the Braf protein from amino acids 486 to 490 (PMID: 26732095). N486_P490del confers a gain of function to the Braf protein as indicated by activation of the MAPK signaling pathway and increased cell proliferation and transformation, and has been demonstrated to confer Braf inhibitor resistance in cell culture (PMID: 37656784, PMID: 26732095).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF N486_P490del

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Transcript NM_004333.6
gDNA chr7:g.140778038_140778052del15
cDNA c.1457_1471del15
Protein p.N486_P490delNVTAP
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140778038_140778052del15 c.1457_1471del15 p.N486_P490delNVTAP RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140777070_140777084del15 c.1457_1471del15 p.T486_N490delTRHVN RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778038_140778052del15 c.1457_1471del15 p.N486_P490delNVTAP RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140777025_140777039del15 c.1456_1470del15 p.P486_I490delPQLAI RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778038_140778052del15 c.1457_1471del15 p.N486_P490delNVTAP RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778038_140778052del15 c.1457_1471del15 p.N486_P490delNVTAP RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140777034_140777048del15 c.1456_1470del15 p.S486_Q490delSTKPQ RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140781658_140781672del15 c.1456_1470del15 p.S486_W490delSSDDW RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140781658_140781672del15 c.1456_1470del15 p.S486_W490delSSDDW RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778038_140778052del15 c.1457_1471del15 p.N486_P490delNVTAP RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140781658_140781672del15 c.1456_1470del15 p.S486_W490delSSDDW RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140781658_140781672del15 c.1456_1470del15 p.S486_W490delSSDDW RefSeq GRCh38/hg38
XM_017012558 chr7:g.140781658_140781672del15 c.1456_1470del15 p.S486_W490delSSDDW RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778038_140778052del15 c.1457_1471del15 p.N486_P490delNVTAP RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778038_140778052del15 c.1457_1471del15 p.N486_P490delNVTAP RefSeq GRCh38/hg38
XM_047420770.1 chr7:g.140734715_140734729del15 c.1456_1470del15 p.I486_A490delIHRSA RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140778002_140778016del15 c.1456_1470del15 p.F486_V490delFKNEV RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140778050_140778064del15 c.1457_1471del15 p.K486_V490delKMLNV RefSeq GRCh38/hg38
XM_017012559 chr7:g.140781658_140781672del15 c.1456_1470del15 p.S486_W490delSSDDW RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140781658_140781672del15 c.1456_1470del15 p.S486_W490delSSDDW RefSeq GRCh38/hg38
NM_001378475.1 chr7:g.140754194_140754208del15 c.1456_1470del15 p.H486_K490delHRDLK RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140781658_140781672del15 c.1456_1470del15 p.S486_W490delSSDDW RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140776980_140776994del15 c.1456_1470del15 p.Y486_H490delYHHLH RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140776980_140776994del15 c.1456_1470del15 p.Y486_H490delYHHLH RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778038_140778052del15 c.1457_1471del15 p.N486_P490delNVTAP RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778038_140778052del15 c.1457_1471del15 p.N486_P490delNVTAP RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140781658_140781672del15 c.1456_1470del15 p.S486_W490delSSDDW 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT03843775 Phase Ib/II Binimetinib + Encorafenib A Study of Binimetinib and Encorafenib in Advanced BRAF Mutant Cancers Completed USA 0