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| Gene | MAP2K1 |
| Variant | L118D |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | MAP2K1 L118D lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L118D is predicted to confer a loss of function to the Map2k1 protein as demonstrated by decreased basal Map2k1 kinase activity in an in vitro assay and is associated with resistance to Mek inhibition (PMID: 12370306). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
MAP2K1 mutant MAP2K1 inact mut MAP2K1 L118D |
| Transcript | NM_002755.4 |
| gDNA | chr15:g.66436806_66436808delCTGinsGAC |
| cDNA | c.352_354delCTGinsGAC |
| Protein | p.L118D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_017022411.3 | chr15:g.66436806_66436808delCTGinsGAC | c.352_354delCTGinsGAC | p.L118D | RefSeq | GRCh38/hg38 |
| XM_017022411.2 | chr15:g.66436806_66436808delCTGinsGAC | c.352_354delCTGinsGAC | p.L118D | RefSeq | GRCh38/hg38 |
| NM_002755.4 | chr15:g.66436806_66436808delCTGinsGAC | c.352_354delCTGinsGAC | p.L118D | RefSeq | GRCh38/hg38 |
| NM_002755.3 | chr15:g.66436806_66436808delCTGinsGAC | c.352_354delCTGinsGAC | p.L118D | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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