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 L597S
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF L597S lies within the protein kinase domain of the Braf protein (UniProt.org). L597S results in activation of Braf as indicated by increased phosphorylation of Mek and Erk in cell culture (PMID: 22798288) and induces cell proliferation and cell viability in culture (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF L597S

BRAF mutant BRAF L597X BRAF L597S

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.140753345_140753346delCTinsTC
cDNA c.1789_1790delCTinsTC
Protein p.L597S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753345_140753346delAGinsGA c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_004333 chr7:g.140753345_140753346delAGinsGA c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753345_140753346delCTinsTC c.1789_1790delCTinsTC p.L597S RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140749333A>G c.1790T>C p.L597S RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749333A>G c.1790T>C p.L597S 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 L597S gain of function MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor
BRAF R239Q BRAF L597S