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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 |
NM_002755.3 | 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 |
XM_017022411.2 | chr15:g.66436806_66436808delCTGinsGAC | c.352_354delCTGinsGAC | p.L118D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
MAP2K1 L118D | Advanced Solid Tumor | predicted - resistant | CI-1040 | Preclinical - Biochemical | Actionable | In a preclinical study, CI-1040 (PD184352) did not inhibit kinase activity of MAP2K1 L118D in an in vitro assay (PMID: 12370306). | 12370306 |