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 R506_K507insLLR
Impact List insertion
Protein Effect gain of function
Gene Variant Descriptions BRAF R506_K507insLLR results in the insertion of three amino acids in the protein kinase domain of the Braf protein between amino acids 506 and 507 (UniProt.org). R506_K507insLLR results in impaired Braf homodimerization and heterodimerization, confers resistance to RAF inhibitors, and leads to increased phosphorylation of Erk1/2 and downstream signaling, and foci formation in cultured cells (PMID: 34108213).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF act mut BRAF R506_K507insLLR

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.140777090_140777091insAAGAAGCCT
cDNA c.1518_1519insCTTCTTAGG
Protein p.R506_K507insLLR
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140777090_140777091insAAGAAGCCT c.1518_1519insCTTCTTAGG p.R506_K507insLLR RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140777090_140777091insAAGAAGCCT c.1518_1519insCTTCTTAGG p.R506_K507insLLR RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140777090_140777091insAAGAAGCCT c.1518_1519insCTTCTTAGG p.R506_K507insLLR RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140777090_140777091insAAGAAGCCT c.1518_1519insCTTCTTAGG p.R506_K507insLLR RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140777090_140777091insAAGAAGCCT c.1518_1519insCTTCTTAGG p.R506_K507insLLR RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140777090_140777091insAAGAAGCCT c.1518_1519insCTTCTTAGG p.R506_K507insLLR RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140777090_140777091insAAGAAGCCT c.1518_1519insCTTCTTAGG p.R506_K507insLLR 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