MAP2K1 L42F
Gene Variant Detail

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Gene MAP2K1
Variant L42F
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions MAP2K1 L42F lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). L42F results in autophosphorylation and kinase activity similar to wild-type Map2k1 in in vitro assays (PMID: 29753091), proliferation similar to wild-type in a competition assay, but increased transformation activity (PMID: 36442478) and increased Erk phosphorylation in cultured cells (PMID: 32641410), and therefore, is predicted to lead to a gain of Map2k1 protein function.
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 L42F

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Transcript NM_002755.4
gDNA chr15:g.66435070C>T
cDNA c.124C>T
Protein p.L42F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.3 chr15:g.66435070C>T c.124C>T p.L42F RefSeq GRCh38/hg38
NM_002755 chr15:g.66435070C>T c.124C>T p.L42F RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435070C>T c.124C>T p.L42F RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435070C>T c.124C>T p.L42F RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435070C>T c.124C>T p.L42F RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435070C>T c.124C>T p.L42F 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 L42F Advanced Solid Tumor predicted - sensitive Trametinib Preclinical - Biochemical Actionable In a preclinical study, Mekinist (trametinib) inhibited Erk phosphorylation in transformed cells expressing MAP2K1 L42F in culture (PMID: 32641410). 32641410