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 I592_A598dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions BRAF I592_A598dup indicates the insertion of seven duplicate amino acids, isoleucine (I)-592 through alanine (A)-598, in the protein kinase domain of the Braf protein (UniProt.org). I592_A598dup has been identified in sequencing studies (PMID: 27571181, PMID: 29615459), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF I592_A598dup

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.140753341_140753361
cDNA c.1774_1794
Protein p.I592_A598
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.6 chr7:g.140753341_140753361 c.1774_1794 p.I592_A598 RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753341_140753361 c.1774_1794 p.I592_A598 RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753341_140753361 c.1774_1794 p.I592_A598 RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753341_140753361 c.1774_1794 p.I592_A598 RefSeq GRCh38/hg38
NM_004333 chr7:g.140753359_140753360insGCAAGACCAAAGTCACCGATT c.1776_1777insATCGGTGACTTTGGTCTTGCA p.I592_A598dup 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