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Gene MAP2K1
Variant F129L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 F129L lies within the protein kinase domain of the Map2k1 protein (UniProt.org). F129L confers a gain of function to the Map2k1 protein as demonstrated by increased kinase activity compared to wild-type, activation of downstream Erk signaling, and increased binding affinity to c-Raf (PMID: 21705440) and also demonstrates resistance to some Mek and Braf inhibitors (PMID: 29753091).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 F129L

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Transcript NM_002755.4
gDNA chr15:g.66436839T>C
cDNA c.385T>C
Protein p.F129L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411.2 chr15:g.66436839T>C c.385T>C p.F129L RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436839T>C c.385T>C p.F129L RefSeq GRCh38/hg38
NM_002755 chr15:g.66436839T>C c.385T>C p.F129L RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436839T>C c.385T>C p.F129L RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436839T>C c.385T>C p.F129L RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436839T>C c.385T>C p.F129L 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 Protein Effect Treatment Approaches
MAP2K1 F129L gain of function MEK inhibitor (Pan) MEK1 Inhibitor
BRAF V600E MAP2K1 F129L