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Gene MAP2K1
Variant G128D
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 G128D lies within the protein kinase domain of the Map2k1 protein (UniProt.org). G128D confers a gain of function to the Map2k1 protein as indicated by increased Erk phosphorylation in culture (PMID: 28115009, PMID: 25899310, PMID: 34726260).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 G128D

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Transcript NM_002755.4
gDNA chr15:g.66436837G>A
cDNA c.383G>A
Protein p.G128D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.3 chr15:g.66436837G>A c.383G>A p.G128D RefSeq GRCh38/hg38
NM_002755 chr15:g.66436837G>A c.383G>A p.G128D RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436837G>A c.383G>A p.G128D RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436837G>A c.383G>A p.G128D RefSeq GRCh38/hg38
XM_017022412 chr15:g.66444666G>A c.383G>A p.G128D RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66444666G>A c.383G>A p.G128D RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436837G>A c.383G>A p.G128D RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66444666G>A c.383G>A p.G128D RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436837G>A c.383G>A p.G128D 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 G128D Advanced Solid Tumor sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited Erk phosphorylation and decreased cell size in a cell line expressing MAP2K1 G128D (PMID: 34726260). 34726260
MAP2K1 G128D Advanced Solid Tumor sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited viability of a transformed cell line expressing MAP2K1 G128D in culture (PMID: 36442478). 36442478