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 V600delinsYM
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions BRAF V600delinsYM results in a deletion of valine (V) at amino acid 600 within the protein kinase domain of the Braf protein, combined with the insertion of a tyrosine (Y) and a methionine (M) at the same site (UniProt.org). V600delinsYM results in increased Braf kinase activity, increased downstream signaling, and the ability to transform cells in culture (PMID: 22752848).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF V600delinsYM

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.140753335_140753337delinsCATATA
cDNA c.1798_1800delinsTATATG
Protein p.V600_600delinsYM
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378474.1 chr7:g.140753335_140753337delinsCATATA c.1798_1800delinsTATATG p.V600_600delinsYM RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753335_140753337delinsCATATA c.1798_1800delinsTATATG p.V600_600delinsYM RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753335_140753337delinsCATATA c.1798_1800delinsTATATG p.V600_600delinsYM RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753335_140753337delinsCATATA c.1798_1800delinsTATATG p.V600_600delinsYM RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753335_140753337delinsCATATA c.1798_1800delinsTATATG p.V600_600delinsYM RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753335_140753337delinsCATATA c.1798_1800delinsTATATG p.V600_600delinsYM RefSeq GRCh38/hg38
NM_004333 chr7:g.140753335_140753337delinsCATATA c.1798_1800delinsTATATG p.V600_600delinsYM RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753335_140753337delinsCATATA c.1798_1800delinsTATATG p.V600_600delinsYM 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