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Gene | MAP2K1 |
Variant | I111A |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | MAP2K1 I111A lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I111A is predicted to confer a gain of function to the Map2k1 protein as demonstrated by increased basal Map2k1 kinase activity in an in vitro assay and is associated with decreased sensitivity to Mek inhibition (PMID: 12370306). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 I111A |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436785_66436786delATinsGC |
cDNA | c.331_332delATinsGC |
Protein | p.I111A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.4 | chr15:g.66436785_66436786delATinsGC | c.331_332delATinsGC | p.I111A | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436785_66436786delATinsGC | c.331_332delATinsGC | p.I111A | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436785_66436786delATinsGC | c.331_332delATinsGC | p.I111A | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436785_66436786delATinsGC | c.331_332delATinsGC | p.I111A | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436785_66436786delATinsGC | c.331_332delATinsGC | p.I111A | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66436785_66436786delATinsGC | c.331_332delATinsGC | p.I111A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
MAP2K1 I111A | Advanced Solid Tumor | decreased response | CI-1040 | Preclinical - Biochemical | Actionable | In a preclinical study, MAP2K1 I111A demonstrated decreased sensitivity to CI-1040 (PD184352) in an in vitro kinase assay (PMID: 12370306). | 12370306 |