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| Gene | MAP2K1 |
| Variant | F53V |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | MAP2K1 F53V lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). F53V confers a gain of function to Map2k1 as demonstrated by increased Erk phosphorylation (PMID: 32641410) and transformation activity in cultured cells and increased proliferation in a competition assay (PMID: 36442478). |
| Associated Drug Resistance | |
| Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 F53V |
| Transcript | NM_002755.4 |
| gDNA | chr15:g.66435103T>G |
| cDNA | c.157T>G |
| Protein | p.F53V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |