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Gene | MAP2K1 |
Variant | L118P |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MAP2K1 L118P lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L118P is associated with MEK inhibitor resistance and results in decreased basal kinase activity in an in vitro assay (PMID: 12370306), and therefore, its predicted to lead to a loss of Map2k1 protein function. |
Associated Drug Resistance | Y |
Transcript | NM_002755.3 |
gDNA | chr15:g.66436807T>C |
cDNA | c.353T>C |
Protein | p.L118P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411.2 | chr15:g.66436807T>C | c.353T>C | p.L118P | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436807T>C | c.353T>C | p.L118P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
MAP2K1 L118P | Advanced Solid Tumor | predicted - resistant | CI-1040 | Preclinical - Biochemical | Actionable | In a preclinical study, CI-1040 (PD184352) did not inhibit kinase activity of MAP2K1 L118P in an in vitro assay (PMID: 12370306). | 12370306 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 L118P | loss of function - predicted |