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 MAP2K1
Variant Q56P
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 Q56P does not lie within any known functional domains of the Map2k1 protein (UniProt.org). Q56P confers a gain of function to the Map2k1 protein as indicated by increased kinase activity and the ability to transform cultured cells (PMID: 7651428, PMID: 22327936, PMID: 25351745) and increased proliferation in a competition assay (PMID: 36442478), and demonstrates resistance to some Mek and Braf inhibitors (PMID: 29753091).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 Q56P

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_002755.4
gDNA chr15:g.66435113A>C
cDNA c.167A>C
Protein p.Q56P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.3 chr15:g.66435113A>C c.167A>C p.Q56P RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435113A>C c.167A>C p.Q56P RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435113A>C c.167A>C p.Q56P RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435113A>C c.167A>C p.Q56P RefSeq GRCh38/hg38
NM_002755 chr15:g.66435113A>C c.167A>C p.Q56P RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435113A>C c.167A>C p.Q56P 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 Protein Effect Treatment Approaches
MAP2K1 Q56P gain of function MEK inhibitor (Pan) MEK1 Inhibitor
BRAF V600E MAP2K1 Q56P
BRAF V600E MAP2K1 Q56P NRAS Q61R
MAP2K1 Q56P MAP2K1 H119Y MAP2K1 D351G