MAP2K1 K57_G61del
Gene Variant Detail

Request Content

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 K57_G61del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 K57_G61del results in the deletion of five amino acids of the Map2k1 protein from amino acids 57 to 61 (UniProt.org). K57_G61del results in proliferation in low serum conditions similar to wild-type Map2k1 (PMID: 36442478), but increased Erk phosphorylation in cultured cells (PMID: 32641410), increased proliferation in high serum conditions in a competition assay, and increased transformation in culture (PMID: 36442478).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 K57_G61del

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.66435115_66435129del15
cDNA c.169_183del15
Protein p.K57_G61del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411.3 chr15:g.66435115_66435129del15 c.169_183del15 p.K57_G61del RefSeq GRCh38/hg38
NM_002755 chr15:g.66435115_66435129del15 c.169_183del15 p.K57_G61del RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435115_66435129del15 c.169_183del15 p.K57_G61del RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435115_66435129del15 c.169_183del15 p.K57_G61del RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435115_66435129del15 c.169_183del15 p.K57_G61del RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435115_66435129del15 c.169_183del15 p.K57_G61del 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 follicular lymphoma not applicable N/A Guideline Diagnostic MAP2K1 mutations aid in the diagnosis of follicular lymphoma (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...
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...