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 G469del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions BRAF G469del results in the deletion of an amino acid in the protein kinase domain of the Braf protein at amino acid 469 (UniProt.org). G469del demonstrates decreased Braf kinase activity, does not activate downstream ERK, and is minimally transforming in cell culture (PMID: 23833300).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF inact mut BRAF G469del

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.140781601_140781603delTCC
cDNA c.1405_1407delGGA
Protein p.G469delG
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047420769.1 chr7:g.140781601_140781603delTCC c.1405_1407delGGA p.G469delG RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140781601_140781603delTCC c.1405_1407delGGA p.G469delG RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140781601_140781603delTCC c.1405_1407delGGA p.G469delG RefSeq GRCh38/hg38
NM_001378475.1 chr7:g.140776935_140776937delTGC c.1405_1407delGCA p.A469delA RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140783048_140783050delAGA c.1407_1409delTTC p.S472delS RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140783048_140783050delAGA c.1407_1409delTTC p.S472delS RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140778000_140778002delCCT c.1406_1408delGAG p.G469delG RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140777088_140777992del905 c.1406_1408del905 p.R469delR RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140781601_140781603delTCC c.1405_1407delGGA p.G469delG RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140783048_140783050delAGA c.1407_1409delTTC p.S472delS RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140783048_140783050delAGA c.1407_1409delTTC p.S472delS RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140781601_140781603delTCC c.1405_1407delGGA p.G469delG RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140783048_140783050delAGA c.1407_1409delTTC p.S472delS RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140777043_140777045delTGT c.1406_1408delCAA p.T469delT RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781601_140781603delTCC c.1405_1407delGGA p.G469delG RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140783048_140783050delAGA c.1407_1409delTTC p.S472delS RefSeq GRCh38/hg38
XM_017012559 chr7:g.140783048_140783050delAGA c.1407_1409delTTC p.S472delS RefSeq GRCh38/hg38
XM_017012558 chr7:g.140783048_140783050delAGA c.1407_1409delTTC p.S472delS RefSeq GRCh38/hg38
XM_047420770.1 chr7:g.140739818_140739820delAAA c.1405_1407delTTT p.F469delF RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140783048_140783050delAGA c.1407_1409delTTC p.S472delS RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140778065_140778067delTGC c.1406_1408delCAG p.A469delA RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781601_140781603delTCC c.1405_1407delGGA p.G469delG RefSeq GRCh38/hg38
NM_004333 chr7:g.140781601_140781603delTCC c.1405_1407delGGA p.G469delG RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140781601_140781603delTCC c.1405_1407delGGA p.G469delG RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140777043_140777045delTGT c.1406_1408delCAA p.T469delT RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140778035_140778037delTGT c.1405_1407delACA p.T469delT RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140781610_140781612delTCC c.1405_1407delGGA p.G469delG 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