MAP2K1 E41_L54del
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 E41_L54del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 E41_L54del results in the deletion of 14 amino acids in the Map2k1 protein from amino acids 41 to 54 (UniProt.org). E41_L54del results in increased Map2k1 nuclear localization, elevated Erk phosphorylation, and cell transformation in culture, and promotes tumorigenesis and confers resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion (PMID: 32122926).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 E41_L54del

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.66435067_66435108del42
cDNA c.121_162del42
Protein p.E41_L54del14
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022412 chr15:g.66435133_66435174del42 c.121_162del42 p.L41_A54del14 RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66435133_66435174del42 c.121_162del42 p.L41_A54del14 RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66435133_66435174del42 c.121_162del42 p.L41_A54del14 RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435067_66435108del42 c.121_162del42 p.E41_L54del14 RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66481835_66481876del42 c.121_162del42 p.D41_M54del14 RefSeq GRCh38/hg38
NM_002755 chr15:g.66435067_66435108del42 c.121_162del42 p.E41_L54del14 RefSeq GRCh38/hg38
XM_017022413 chr15:g.66481835_66481876del42 c.121_162del42 p.D41_M54del14 RefSeq GRCh38/hg38
XM_011521783 chr15:g.66435133_66435174del42 c.121_162del42 p.L41_A54del14 RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66435133_66435174del42 c.121_162del42 p.L41_A54del14 RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435067_66435108del42 c.121_162del42 p.E41_L54del14 RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435067_66435108del42 c.121_162del42 p.E41_L54del14 RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435067_66435108del42 c.121_162del42 p.E41_L54del14 RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435067_66435108del42 c.121_162del42 p.E41_L54del14 RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66435133_66435174del42 c.121_162del42 p.L41_A54del14 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 E41_L54del lung cancer sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited growth of transformed human lung cells expressing MAP2K1 E41_L54del in culture (PMID: 32122926). 32122926
MAP2K1 E41_L54del lung cancer sensitive Cobimetinib Preclinical - Cell culture Actionable In a preclinical study, Cotellic (cobimetinib) inhibited growth of transformed human lung cells expressing MAP2K1 E41_L54del in culture (PMID: 32122926). 32122926
MAP2K1 E41_L54del lung cancer sensitive Selumetinib Preclinical - Cell culture Actionable In a preclinical study, Koselugo (selumetinib) inhibited growth of transformed human lung cells expressing MAP2K1 E41_L54del in culture (PMID: 32122926). 32122926
MAP2K1 E41_L54del lung cancer no benefit LY3009120 Preclinical - Cell culture Actionable In a preclinical study, transformed human lung cells expressing MAP2K1 E41_L54del were not sensitive to LY3009120 in culture (PMID: 32122926). 32122926
MAP2K1 E41_L54del Advanced Solid Tumor sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited growth of transformed cells expressing MAP2K1 E41_L54del in culture (PMID: 32122926). 32122926
MAP2K1 E41_L54del Advanced Solid Tumor sensitive Selumetinib Preclinical - Cell culture Actionable In a preclinical study, Koselugo (selumetinib) inhibited growth of transformed cells expressing MAP2K1 E41_L54del in culture (PMID: 32122926). 32122926
MAP2K1 E41_L54del Advanced Solid Tumor sensitive Cobimetinib Preclinical - Cell culture Actionable In a preclinical study, Cotellic (cobimetinib) inhibited growth of transformed cells expressing MAP2K1 E41_L54del in culture (PMID: 32122926). 32122926
MAP2K1 E41_L54del Advanced Solid Tumor no benefit LY3009120 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing MAP2K1 E41_L54del were not sensitive to LY3009120 in culture (PMID: 32122926). 32122926