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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 |
| 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_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 |
| XM_017022412.1 | chr15:g.66444666G>A | c.383G>A | p.G128D | RefSeq | GRCh38/hg38 |
| NM_002755.4 | 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 |
| XM_017022411.2 | 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_017022411.3 | chr15:g.66436837G>A | c.383G>A | p.G128D | RefSeq | GRCh38/hg38 |
| 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 |