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| Gene | MAP2K1 |
| Variant | L177V |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | MAP2K1 L177V lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L177V results in phosphorylation of Erk (PMID: 32641410, PMID: 29483135) and phosphorylation of Mek in culture (PMID: 29483135), 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 L177V |
| Transcript | NM_002755.4 |
| gDNA | chr15:g.66444668C>G |
| cDNA | c.529C>G |
| Protein | p.L177V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002755.4 | chr15:g.66444668C>G | c.529C>G | p.L177V | RefSeq | GRCh38/hg38 |
| NM_002755 | chr15:g.66444668C>G | c.529C>G | p.L177V | RefSeq | GRCh38/hg38 |
| NM_002755.3 | chr15:g.66444668C>G | c.529C>G | p.L177V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| MAP2K1 L177V | gain of function - predicted |