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 T488_Q493delinsK
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF T488_Q493delinsK results in the deletion of six amino acids in the protein kinase domain of the Braf protein from amino acids 488 to 493, combined with the insertion of a lysine (K) at the same site (UniProt.org). T488_Q493delinsK has not been characterized, however, is predicted to lead to a gain of protein function due to other characterized BRAF deletions in the same region (PMID: 26732095).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF T488_Q493delinsK

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.140778031_140778045del15
cDNA c.1463_1477del15
Protein p.T488_Q493delinsK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778031_140778045del15 c.1463_1477del15 p.T488_Q493delinsK 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