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 L525R
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF L525R lies within the protein kinase domain of the Braf protein (UniProt.org). L525R results in increased activation of Erk signaling in a dimer-dependent but RAS-independent manner (PMID: 31515458, PMID: 28972961), 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 L525R

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.140777032A>C
cDNA c.1574T>G
Protein p.L525R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.1 chr7:g.140777032A>C c.1574T>G p.L525R RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140778054_140778055delTTinsAG c.1573_1574delTTinsAG p.L525R RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140778054_140778055delTTinsAG c.1573_1574delTTinsAG p.L525R RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140777032A>C c.1574T>G p.L525R RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140777032A>C c.1574T>G p.L525R RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140777032A>C c.1574T>G p.L525R RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140777032A>C c.1574T>G p.L525R RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140777032A>C c.1574T>G p.L525R RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140778054_140778055delTTinsAG c.1573_1574delTTinsAG p.L525R RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140754198A>C c.1574T>G p.L525R RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140777032A>C c.1574T>G p.L525R RefSeq GRCh38/hg38
NM_001378475.1 chr7:g.140753297_140753298delTTinsAG c.1573_1574delTTinsAG p.L525R RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140776996_140776997delTTinsAG c.1573_1574delTTinsAG p.L525R RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140778054_140778055delTTinsAG c.1573_1574delTTinsAG p.L525R RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140778054_140778055delTTinsAG c.1573_1574delTTinsAG p.L525R RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140778054_140778055delTTinsAG c.1573_1574delTTinsAG p.L525R RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140778054_140778055delTTinsAG c.1573_1574delTTinsAG p.L525R RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140754198A>C c.1574T>G p.L525R 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 L525R colorectal cancer not predictive Cetuximab Case Reports/Case Series Actionable In a clinical study, Erbitux (cetuximab) treatment as a third-line therapy resulted in stable disease with progression-free survival of 4 months in a patient with metastatic colorectal cancer harboring BRAF L525R (PMID: 31515458). 31515458
BRAF L525R Advanced Solid Tumor sensitive Selumetinib Preclinical - Cell culture Actionable In a preclinical study, Koselugo (selumetinib) inhibited viability of cells expressing BRAF L525R in culture (PMID: 36856908). 36856908
BRAF L525R Advanced Solid Tumor predicted - sensitive Dactolisib + Selumetinib Preclinical - Cell culture Actionable In a preclinical study, the addition of Dactolisib (BEZ235) to treatment with Koselugo (selumetinib) resulted in increased inhibition of proliferation in Koselugo (selumetinib)-resistant cells expressing BRAF L525R compared to Dactolisib (BEZ235) alone (PMID: 36856908). 36856908
BRAF L525R Advanced Solid Tumor sensitive Dactolisib Preclinical - Cell culture Actionable In a preclinical study, Dactolisib (BEZ235) inhibited viability of cells expressing BRAF L525R in culture (PMID: 36856908). 36856908