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Gene BRAF
Variant P490_Q494del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF P490_Q494del results in the deletion of five amino acids in the protein kinase domain of the Braf protein from amino acids 490 to 494 (PMID: 26732095). P490_Q494del results in activation of Mek in cell culture (PMID: 26996308), and similar Braf deletions are activating (PMID: 26996308, PMID: 26732095), and therefore, is predicted to lead to a gain of Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF P490_Q494del

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Transcript NM_004333.6
gDNA chr7:g.140778026_140778040del15
cDNA c.1468_1482del15
Protein p.P490_Q494delPTPQQ
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378467.1 chr7:g.140778035_140778049del15 c.1468_1482del15 p.V490_T494delVTAPT RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778026_140778040del15 c.1468_1482del15 p.P490_Q494delPTPQQ RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140777022_140777036del15 c.1468_1482del15 p.Q490_V494delQLAIV RefSeq GRCh38/hg38
XM_047420770.1 chr7:g.140734702_140734716del15 c.1468_1482del15 p.A490_S494delASEPS RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140781650_140781664del15 c.1468_1482del15 p.W490_D494delWEIPD RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778026_140778040del15 c.1468_1482del15 p.P490_Q494delPTPQQ RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778026_140778040del15 c.1468_1482del15 p.P490_Q494delPTPQQ RefSeq GRCh38/hg38
NM_004333 chr7:g.140778026_140778040del15 c.1468_1482del15 p.P490_Q494delPTPQQ RefSeq GRCh38/hg38
XM_017012559 chr7:g.140781650_140781664del15 c.1468_1482del15 p.W490_D494delWEIPD RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778026_140778040del15 c.1468_1482del15 p.P490_Q494delPTPQQ RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140781650_140781664del15 c.1468_1482del15 p.W490_D494delWEIPD RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140781650_140781664del15 c.1468_1482del15 p.W490_D494delWEIPD RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140776969_140776983del15 c.1468_1482del15 p.H490_T494delHIIET RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140781650_140781664del15 c.1468_1482del15 p.W490_D494delWEIPD RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140781650_140781664del15 c.1468_1482del15 p.W490_D494delWEIPD RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140781650_140781664del15 c.1468_1482del15 p.W490_D494delWEIPD RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140776969_140776983del15 c.1468_1482del15 p.H490_T494delHIIET RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778026_140778040del15 c.1468_1482del15 p.P490_Q494delPTPQQ RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140777013_140777027del15 c.1468_1482del15 p.I490_W494delIVTQW RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778026_140778040del15 c.1468_1482del15 p.P490_Q494delPTPQQ RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140777088_140778004del917 c.1468_1482del917 p.V490_R494delVGVLR RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778026_140778040del15 c.1468_1482del15 p.P490_Q494delPTPQQ RefSeq GRCh38/hg38
NM_001378475.1 chr7:g.140753389_140754196del808 c.1468_1482del808 p.K490_I494delKSNNI RefSeq GRCh38/hg38
XM_017012558 chr7:g.140781650_140781664del15 c.1468_1482del15 p.W490_D494delWEIPD RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140781650_140781664del15 c.1468_1482del15 p.W490_D494delWEIPD RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140777058_140777072del15 c.1469_1483del15 p.N490_F494delNILLF RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778026_140778040del15 c.1468_1482del15 p.P490_Q494delPTPQQ 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 P490_Q494del gain of function - predicted MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor