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| Gene | MAP2K1 |
| Variant | E203K |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | MAP2K1 E203K lies within the protein kinase domain of the Map2k1 protein (UniProt.org). E203K confers a gain of function to the Map2k1 protein as demonstrated by constitutive Erk phosphorylation (PMID: 22197931, PMID: 29483135) and cell transformation in culture (PMID: 22197931), and is associated with drug resistance in the context of BRAF V600E in culture (PMID: 28986383). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 E203K |
| Transcript | NM_002755.4 |
| gDNA | chr15:g.66481793G>A |
| cDNA | c.607G>A |
| Protein | p.E203K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |