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 G203_G393del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF G203_G393del results in the deletion of 91 amino acids of the Braf protein from amino acids 203 to 393 (UniProt.org). G203_G393del (reported as internal deletion of exons 5-9) has not been characterized, however, due to the disruption of the CR1 autoinhibitory domain and preservation of the protein kinase domain (PMID: 23890088, PMID: 22113612, PMID: 29171936), is predicted to lead to a gain of Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF G203_G393del

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.140783156_140808893del25738
cDNA c.607_1179del25738
Protein p.G203_G393del191
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378472.1 chr7:g.140781673_140801509del19837 c.607_1179del19837 p.L203_D393del191 RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140787556_140808894del21339 c.608_1180del21339 p.G203_G393del191 RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140785807_140808893del23087 c.607_1179del23087 p.G203_A393del191 RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140783045_140808893del25849 c.607_1179del25849 p.G203_S393del191 RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140783156_140808893del25738 c.607_1179del25738 p.G203_G393del191 RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140783156_140808893del25738 c.607_1179del25738 p.G203_G393del191 RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140783120_140801509del18390 c.607_1179del18390 p.F204_L394del191 RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140783090_140808893del25804 c.607_1179del25804 p.G203_A393del191 RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140783156_140808893del25738 c.607_1179del25738 p.G203_G393del191 RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140783156_140808893del25738 c.607_1179del25738 p.G203_G393del191 RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140785807_140808893del23087 c.607_1179del23087 p.G203_A393del191 RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140785807_140808893del23087 c.607_1179del23087 p.G203_A393del191 RefSeq GRCh38/hg38
NM_004333 chr7:g.140783156_140808893del25738 c.607_1179del25738 p.G203_G393del191 RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140783054_140807962del24909 c.608_1180del24909 p.F203_K393del191 RefSeq GRCh38/hg38
XM_005250045 chr7:g.140783156_140808893del25738 c.607_1179del25738 p.G203_G393del191 RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140783156_140808893del25738 c.607_1179del25738 p.G203_G393del191 RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140783156_140808893del25738 c.607_1179del25738 p.G203_G393del191 RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140785807_140808893del23087 c.607_1179del23087 p.G203_A393del191 RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140781673_140801509del19837 c.607_1179del19837 p.L203_D393del191 RefSeq GRCh38/hg38
XM_017012559 chr7:g.140785807_140808893del23087 c.607_1179del23087 p.G203_A393del191 RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140785807_140808893del23087 c.607_1179del23087 p.G203_A393del191 RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140783156_140808893del25738 c.607_1179del25738 p.G203_G393del191 RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140785807_140808893del23087 c.607_1179del23087 p.G203_A393del191 RefSeq GRCh38/hg38
XM_047420770.1 chr7:g.140749386_140781687del32302 c.608_1180del32302 p.L203_N393del191 RefSeq GRCh38/hg38
XM_017012558 chr7:g.140785807_140808893del23087 c.607_1179del23087 p.G203_A393del191 RefSeq GRCh38/hg38
NM_001378475.1 chr7:g.140778065_140800471del22407 c.609_1181del22407 p.S204_V394del191 RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140785807_140808893del23087 c.607_1179del23087 p.G203_A393del191 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