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| Gene | MAP2K1 |
| Variant | N122D |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | MAP2K1 N122D lies within the protein kinase domain of the Map2k1 protein (UniProt.org). N122D results in 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 N122D |
| Transcript | NM_002755.4 |
| gDNA | chr15:g.66436818A>G |
| cDNA | c.364A>G |
| Protein | p.N122D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002755 | chr15:g.66436818A>G | c.364A>G | p.N122D | RefSeq | GRCh38/hg38 |
| XM_017022411 | chr15:g.66436818A>G | c.364A>G | p.N122D | RefSeq | GRCh38/hg38 |
| NM_002755.4 | chr15:g.66436818A>G | c.364A>G | p.N122D | RefSeq | GRCh38/hg38 |
| NM_002755.3 | chr15:g.66436818A>G | c.364A>G | p.N122D | RefSeq | GRCh38/hg38 |
| XM_017022411.2 | chr15:g.66436818A>G | c.364A>G | p.N122D | RefSeq | GRCh38/hg38 |
| XM_017022411.3 | chr15:g.66436818A>G | c.364A>G | p.N122D | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| MAP2K1 N122D | Advanced Solid Tumor | predicted - sensitive | SCH772984 | Preclinical - Biochemical | Actionable | In a preclinical study, SCH772984 inhibited downstream signaling in transformed cells expressing MAP2K1 N122D in culture (PMID: 32641410). | 32641410 |