MAP2K1 P124L
Gene Variant Detail

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Gene MAP2K1
Variant P124L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 P124L lies within the protein kinase domain of the Map2k1 protein (UniProt.org). P124L confers a gain of function on the Map2k1 protein as demonstrated by Raf-dependent activation of Erk in an in vitro assay and moderately increased Erk and Mek phosphorylation in cultured cells (PMID: 29483135) and confers resistance to some Mek and Braf inhibitors in the context of BRAF V600 mutations in cultured cells (PMID: 19915144).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 P124L

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Transcript NM_002755.4
gDNA chr15:g.66436825C>T
cDNA c.371C>T
Protein p.P124L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411.3 chr15:g.66436825C>T c.371C>T p.P124L RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436825C>T c.371C>T p.P124L RefSeq GRCh38/hg38
NM_002755 chr15:g.66436825C>T c.371C>T p.P124L RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436825C>T c.371C>T p.P124L RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436825C>T c.371C>T p.P124L RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436825C>T c.371C>T p.P124L 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 P124L lymphatic system cancer predicted - sensitive Cobimetinib Case Reports/Case Series Actionable In a Phase II trial, treatment with Cotellic (cobimetinib) in patients with histiocytic neoplasms resulted in a PET overall response rate of 89% (16/18), with complete response in 72% (13/18) and partial response in 17% (3/18), and resulted in stable disease in 6% (1/18) of patients, including a complete response in a patient with mixed histiocytosis harboring MAP2K1 P124L (PMID: 30867592; NCT01953926). 30867592