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 V487_P492delinsA
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions BRAF V487_P492delinsA results in a deletion of six amino acids in the protein kinase domain of the Braf protein from amino acids 487 to 492, combined with the insertion of an alanine (A) at the same site (UniProt.org). V487_P492delinsA results in increased Mek/Erk phosphorylation, cell proliferation and transformation (PMID: 26732095, PMID: 37656784), and confers resistance to select RAF inhibitors in culture (PMID: 37656784).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF V487_P492delinsA

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.140778034_140778048del15
cDNA c.1460_1474del15
Protein p.V487_P492delinsA
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA RefSeq GRCh38/hg38
NM_004333 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778034_140778048del15 c.1460_1474del15 p.V487_P492delinsA 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 V487_P492delinsA pancreatic cancer sensitive LY3009120 Preclinical Actionable In a preclinical study, a pancreatic cancer cell line harboring BRAF V487_P492delinsA were sensitive to LY3009120 in culture and in xenograft models, resulting in inhibition of tumor growth and partial tumor regression (PMID: 26732095). 26732095
BRAF V487_P492delinsA pancreatic cancer sensitive Trametinib Preclinical Actionable In a preclinical study, a pancreatic cancer cell line harboring BRAF V487_P492delinsA was sensitive to Mekinist (trametinib) in culture, resulting in cell growth inhibition (PMID: 26732095). 26732095
BRAF V487_P492delinsA pancreatic cancer resistant Vemurafenib Preclinical - Cell line xenograft Actionable In a preclinical study, a human pancreatic cancer cell line harboring BRAF V487_P492delinsA was resistant to treatment with Zelboraf (vemurafenib) in both culture and xenograft models (PMID: 26732095). 26732095
BRAF V487_P492delinsA pancreatic cancer resistant Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, a pancreatic cancer cell line harboring BRAF V487_P492delinsA was resistant to Zelboraf (vemurafenib) in culture (PMID: 37164118). 37164118
BRAF V487_P492delinsA pancreatic cancer resistant Dabrafenib Preclinical Actionable In a preclinical study, a pancreatic cancer cell line harboring BRAF V487_P492delinsA was resistant to Tafinlar (dabrafenib) (PMID: 26732095). 26732095
BRAF V487_P492delinsA pancreatic cancer sensitive IHMT-RAF-128 Preclinical - Cell line xenograft Actionable In a preclinical study, IHMT-RAF-128 inhibited proliferation in a pancreatic cancer cell line harboring BRAF V487_P492delinsA in culture and inhibited tumor growth in a cell line xenograft model (PMID: 37164118). 37164118
BRAF V487_P492delinsA Advanced Solid Tumor predicted - sensitive Trametinib Preclinical - Biochemical Actionable In a preclinical study, Mekinist (trametinib) inhibited Mek and Erk phosphorylation in cells expressing BRAF V487_P492delinsA in culture (PMID: 37656784). 37656784
BRAF V487_P492delinsA Advanced Solid Tumor predicted - resistant Vemurafenib Preclinical - Biochemical Actionable In a preclinical study, Zelboraf (vemurafenib) did not inhibit Mek and Erk phosphorylation in cells expressing BRAF V487_P492delinsA in culture (PMID: 37656784). 37656784
BRAF V487_P492delinsA Advanced Solid Tumor predicted - sensitive Dabrafenib Preclinical - Biochemical Actionable In a preclinical study, Tafinlar (dabrafenib) inhibited Mek and Erk phosphorylation in cells expressing BRAF V487_P492delinsA in culture (PMID: 37656784). 37656784
BRAF V487_P492delinsA Advanced Solid Tumor predicted - sensitive LXH 254 Preclinical - Biochemical Actionable In a preclinical study, LXH 254 inhibited Mek and Erk phosphorylation in cells expressing BRAF V487_P492delinsA in culture (PMID: 37656784). 37656784
BRAF V487_P492delinsA pancreatic carcinoma sensitive LXH 254 Preclinical - Cell culture Actionable In a preclinical study, LXH 254 inhibited MAPK signaling and colony formation in a pancreatic carcinoma cell line harboring BRAF V487_P492delinsA in culture (PMID: 37656784). 37656784
BRAF V487_P492delinsA pancreatic carcinoma sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited MAPK signaling and colony formation in a pancreatic carcinoma cell line harboring BRAF V487_P492delinsA in culture (PMID: 37656784). 37656784
BRAF V487_P492delinsA pancreatic carcinoma decreased response Encorafenib Preclinical - Cell culture Actionable In a preclinical study, a pancreatic carcinoma cell line harboring BRAF V487_P492delinsA was less sensitive to Braftovi (encorafenib) treatment compared to type II RAF inhibitors in culture (PMID: 37656784). 37656784
BRAF V487_P492delinsA pancreatic carcinoma sensitive Sorafenib Preclinical - Cell culture Actionable In a preclinical study, Nexavar (sorafenib) inhibited colony formation in a pancreatic carcinoma cell line harboring BRAF V487_P492delinsA in culture (PMID: 37656784). 37656784
BRAF V487_P492delinsA pancreatic carcinoma predicted - sensitive Ulixertinib Preclinical - Biochemical Actionable In a preclinical study, Ulixertinib (BVD-523) inhibited metabolic activity in a pancreatic carcinoma cell line harboring BRAF V487_P492delinsA in culture (PMID: 37656784). 37656784
BRAF V487_P492delinsA pancreatic carcinoma predicted - sensitive LXH 254 + Trametinib Preclinical - Biochemical Actionable In a preclinical study, combination of Mekinist (trametinib) and LXH 254 resulted in enhanced inhibition of metabolic activity in a pancreatic carcinoma cell line harboring BRAF V487_P492delinsA in culture (PMID: 37656784). 37656784
BRAF V487_P492delinsA pancreatic carcinoma predicted - sensitive Sorafenib + Trametinib Preclinical - Biochemical Actionable In a preclinical study, combination of Mekinist (trametinib) and Nexavar (sorafenib) resulted in enhanced inhibition of metabolic activity in a pancreatic carcinoma cell line harboring BRAF V487_P492delinsA in culture (PMID: 37656784). 37656784