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 S222D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MAP2K1 S222D lies within the protein kinase domain of the Map2k1 protein (UniProt.org). S222D results in constitutive activation of Map2k1 when combined with S218D or S226D in culture (PMID: 7936666, PMID: 12506122), but has not been individually characterized and therefore, its effect on Map2k1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 S222D

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.66481850_66481851delTCinsGA
cDNA c.664_665delTCinsGA
Protein p.S222D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411.2 chr15:g.66485038_66485039delAGinsGA c.664_665delAGinsGA p.S222D RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66485026_66485028delTCAinsGAC c.664_666delTCAinsGAC p.S222D RefSeq GRCh38/hg38
XM_017022411 chr15:g.66485038_66485039delAGinsGA c.664_665delAGinsGA p.S222D RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66481850_66481851delTCinsGA c.664_665delTCinsGA p.S222D RefSeq GRCh38/hg38
XM_011521783 chr15:g.66485026_66485028delTCAinsGAC c.664_666delTCAinsGAC p.S222D RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66485026_66485028delTCAinsGAC c.664_666delTCAinsGAC p.S222D RefSeq GRCh38/hg38
NM_002755 chr15:g.66481850_66481851delTCinsGA c.664_665delTCinsGA p.S222D RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66481850_66481851delTCinsGA c.664_665delTCinsGA p.S222D RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66485038_66485039delAGinsGA c.664_665delAGinsGA p.S222D 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
MAP2K1 mutant Erdheim-Chester disease sensitive Trametinib Guideline Actionable Mekinist (trametinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org). detail...
MAP2K1 mutant Erdheim-Chester disease sensitive Cobimetinib Guideline Actionable Cotellic (cobimetinib) is included in guidelines as preferred first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org). detail...