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Gene | MAP2K1 |
Variant | I139G |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | MAP2K1 I139G lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I139G is predicted to have no effect on Map2k1 protein function as demonstrated by basal kinase activity similar to wild-type Map2k1 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 I139G |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436869_66436870delATinsGG |
cDNA | c.415_416delATinsGG |
Protein | p.I139G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.4 | chr15:g.66436869_66436870delATinsGG | c.415_416delATinsGG | p.I139G | RefSeq | GRCh38/hg38 |
XM_011521783.4 | chr15:g.66443322_66443323delATinsGG | c.415_416delATinsGG | p.I139G | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436869_66436870delATinsGG | c.415_416delATinsGG | p.I139G | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436869_66436870delATinsGG | c.415_416delATinsGG | p.I139G | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436869_66436870delATinsGG | c.415_416delATinsGG | p.I139G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
MAP2K1 I139G | Advanced Solid Tumor | predicted - resistant | CI-1040 | Preclinical - Biochemical | Actionable | In a preclinical study, CI-1040 (PD184352) did not inhibit kinase activity of MAP2K1 I139G in an in vitro assay (PMID: 12370306). | 12370306 |