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Gene | MAP2K1 |
Variant | L115A |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | MAP2K1 L115A lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L115A is predicted to confer a gain of function to the Map2k1 protein, as demonstrated by increased kinase activity in an in vitro assay (PMID: 12370306) and is also associated with decreased binding and partial response to Mek inhibitors (PMID: 12370306). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 L115A |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436797_66436798delCTinsGC |
cDNA | c.343_344delCTinsGC |
Protein | p.L115A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411.2 | chr15:g.66436797_66436798delCTinsGC | c.343_344delCTinsGC | p.L115A | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436797_66436798delCTinsGC | c.343_344delCTinsGC | p.L115A | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436797_66436798delCTinsGC | c.343_344delCTinsGC | p.L115A | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436797_66436798delCTinsGC | c.343_344delCTinsGC | p.L115A | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66436797_66436798delCTinsGC | c.343_344delCTinsGC | p.L115A | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436797_66436798delCTinsGC | c.343_344delCTinsGC | p.L115A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
MAP2K1 L115A | Advanced Solid Tumor | decreased response | CI-1040 | Preclinical - Biochemical | Actionable | In a preclinical study, MAP2K1 L115A demonstrated decreased sensitivity to CI-1040 (PD184352) in an in vitro kinase assay (PMID: 12370306). | 12370306 |