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| Gene | MAP2K1 |
| Variant | S194P |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | MAP2K1 S194P lies within the protein kinase domain of the Map2k1 protein (UniProt.org). S194P results in increased autophosphorylation, Erk1/2 phosphorylation, and proliferation in culture (PMID: 39313591), and has been demonstrated to confer resistance to Raf and Mek inhibitors in the context of BRAF V600E in culture (PMID: 39424923). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 S194P |
| Transcript | NM_002755.4 |
| gDNA | chr15:g.66481766T>C |
| cDNA | c.580T>C |
| Protein | p.S194P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002755.4 | chr15:g.66481766T>C | c.580T>C | p.S194P | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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