Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene BRAF
Variant T488_P492del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF T488_P492del 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 488 to 492 (PMID: 26732095). T488_P492del 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 T488_P492del

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.

Transcript NM_004333.6
gDNA chr7:g.140778032_140778046del15
cDNA c.1462_1476del15
Protein p.T488_P492delTAPTP
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047420769.1 chr7:g.140778032_140778046del15 c.1462_1476del15 p.T488_P492delTAPTP RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140781653_140781667del15 c.1462_1476del15 p.D488_I492delDDWEI RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140777028_140777042del15 c.1463_1477del15 p.K488_A492delKPQLA RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140781653_140781667del15 c.1462_1476del15 p.D488_I492delDDWEI RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140781653_140781667del15 c.1462_1476del15 p.D488_I492delDDWEI RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140778041_140778055del15 c.1462_1476del15 p.L488_A492delLNVTA RefSeq GRCh38/hg38
NM_001378475.1 chr7:g.140754188_140754202del15 c.1462_1476del15 p.D488_N492delDLKSN RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778032_140778046del15 c.1462_1476del15 p.T488_P492delTAPTP RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140777065_140777079del15 c.1463_1477del15 p.H488_L492delHVNIL RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140781653_140781667del15 c.1462_1476del15 p.D488_I492delDDWEI RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778032_140778046del15 c.1462_1476del15 p.T488_P492delTAPTP RefSeq GRCh38/hg38
XM_047420770.1 chr7:g.140734708_140734722del15 c.1463_1477del15 p.R488_E492delRSASE RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140776974_140776988del15 c.1462_1476del15 p.H488_I492delHLHII RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140781653_140781667del15 c.1462_1476del15 p.D488_I492delDDWEI RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140777019_140777033del15 c.1463_1477del15 p.L488_T492delLAIVT RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778032_140778046del15 c.1462_1476del15 p.T488_P492delTAPTP RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778032_140778046del15 c.1462_1476del15 p.T488_P492delTAPTP RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140781653_140781667del15 c.1462_1476del15 p.D488_I492delDDWEI RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778032_140778046del15 c.1462_1476del15 p.T488_P492delTAPTP RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778032_140778046del15 c.1462_1476del15 p.T488_P492delTAPTP RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778032_140778046del15 c.1462_1476del15 p.T488_P492delTAPTP RefSeq GRCh38/hg38
XM_017012558 chr7:g.140781653_140781667del15 c.1462_1476del15 p.D488_I492delDDWEI RefSeq GRCh38/hg38
NM_004333 chr7:g.140778032_140778046del15 c.1462_1476del15 p.T488_P492delTAPTP RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140777997_140778011del15 c.1462_1476del15 p.N488_V492delNEVGV RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140781653_140781667del15 c.1462_1476del15 p.D488_I492delDDWEI RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140776974_140776988del15 c.1462_1476del15 p.H488_I492delHLHII RefSeq GRCh38/hg38
XM_017012559 chr7:g.140781653_140781667del15 c.1462_1476del15 p.D488_I492delDDWEI 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References