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 L118D
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MAP2K1 L118D lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L118D is predicted to confer a loss of function to the Map2k1 protein as demonstrated by decreased basal Map2k1 kinase activity in an in vitro assay and is associated with resistance to Mek inhibition (PMID: 12370306).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 inact mut MAP2K1 L118D

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.66436806_66436808delCTGinsGAC
cDNA c.352_354delCTGinsGAC
Protein p.L118D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411.3 chr15:g.66436806_66436808delCTGinsGAC c.352_354delCTGinsGAC p.L118D RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436806_66436808delCTGinsGAC c.352_354delCTGinsGAC p.L118D RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436806_66436808delCTGinsGAC c.352_354delCTGinsGAC p.L118D RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436806_66436808delCTGinsGAC c.352_354delCTGinsGAC p.L118D 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 L118D loss of function - predicted