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 R239Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF R239Q lies within the phorbol-ester/DAG-type zinc finger domain of the Braf protein (UniProt.org). R239Q has been identified in the scientific literature (PMID: 29903896), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Dec 2023).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF R239Q

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.140801556C>T
cDNA c.716G>A
Protein p.R239Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_004333 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
XM_005250045 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
XM_017012558 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
XM_017012559 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140801556C>T c.716G>A p.R239Q RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140801556C>T c.716G>A p.R239Q 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