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 L597X
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF L597X indicates any BRAF missense mutation that results in replacement of the leucine (L) at amino acid 597 by a different amino acid.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF L597X

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.140753344_140753346
cDNA c.1789_1791
Protein p.L597
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378474.1 chr7:g.140753344_140753346 c.1789_1791 p.L597 RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749332_140749334 c.1789_1791 p.L597 RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753344_140753346 c.1789_1791 p.L597 RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753344_140753346 c.1789_1791 p.L597 RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753344_140753346 c.1789_1791 p.L597 RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140749332_140749334 c.1789_1791 p.L597 RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753344_140753346 c.1789_1791 p.L597 RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753344_140753346 c.1789_1791 p.L597 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 L597X melanoma sensitive Trametinib Guideline Actionable Mekinist (trametinib) is included in guidelines as second-line therapy for metastatic or unresectable cutaneous melanoma patients with BRAF L597 mutations (NCCN.org). detail...