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Gene | MAP2K1 |
Variant | L118G |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MAP2K1 L118G lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L118G 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 decreased sensitivity to Mek inhibition (PMID: 12370306). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 inact mut MAP2K1 L118G |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436806_66436807delCTinsGG |
cDNA | c.352_353delCTinsGG |
Protein | p.L118G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411.2 | chr15:g.66436806_66436807delCTinsGG | c.352_353delCTinsGG | p.L118G | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436806_66436807delCTinsGG | c.352_353delCTinsGG | p.L118G | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436806_66436807delCTinsGG | c.352_353delCTinsGG | p.L118G | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436806_66436807delCTinsGG | c.352_353delCTinsGG | p.L118G | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 L118G | loss of function - predicted |