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@genomenon.com

Gene BRAF
Variant G469L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF G469L lies within the protein kinase domain of the Braf protein (UniProt.org). G469L has been identified in the scientific literature (PMID: 24035431, PMID: 26301799, PMID: 26200454), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF G469X BRAF G469L

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.140781602_140781603delGGinsCT
cDNA c.1405_1406delGGinsCT
Protein p.G469L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.6 chr7:g.140781602_140781603delGGinsCT c.1405_1406delGGinsCT p.G469L RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140781602_140781603delGGinsCT c.1405_1406delGGinsCT p.G469L RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781602_140781603delCCinsAG c.1405_1406delGGinsCT p.G469L RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140781602_140781603delGGinsCT c.1405_1406delGGinsCT p.G469L RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781602_140781603delGGinsCT c.1405_1406delGGinsCT p.G469L RefSeq GRCh38/hg38
NM_004333 chr7:g.140781602_140781603delCCinsAG c.1405_1406delGGinsCT p.G469L RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781602_140781603delGGinsCT c.1405_1406delGGinsCT p.G469L RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140778000_140778001delGGinsCT c.1405_1406delGGinsCT p.G469L RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140781602_140781603delGGinsCT c.1405_1406delGGinsCT p.G469L RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140781611_140781612delGGinsCT c.1405_1406delGGinsCT p.G469L RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140781602_140781603delGGinsCT c.1405_1406delGGinsCT p.G469L 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
BRAF G469L lung adenocarcinoma no benefit Vemurafenib Case Reports/Case Series Actionable In a clinical case study, a lung adenocarcinoma patient harboring BRAF G469L did not respond to Zelboraf (vemurafenib) therapy (PMID: 24035431). 24035431