BRAF L505H - Gene Variant Detail

Request Content

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 L505H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF L505H lies within the protein kinase domain of the Braf protein (UniProt.org). L505H confers a gain of function to the Braf protein resulting in MEK/ERK activation and oncogenic transformation in cultured cells, and is associated with resistance to RAF inhibitors (PMID: 24283590).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF L505H

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.140777994A>T
cDNA c.1514T>A
Protein p.L505H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
XM_005250045 chr7:g.140777994A>T c.1514T>A p.L505H RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140777994A>T c.1514T>A p.L505H 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries