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Gene | MAP2K1 |
Variant | I111R |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | MAP2K1 I111R lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I111R 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 also associated with resistance to Mek inhibition (PMID: 12370306). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 I111R |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436786_66436787delTCinsGG |
cDNA | c.332_333delTCinsGG |
Protein | p.I111R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411.3 | chr15:g.66436786_66436787delTCinsGG | c.332_333delTCinsGG | p.I111R | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436786_66436787delTCinsGG | c.332_333delTCinsGG | p.I111R | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436786_66436787delTCinsGG | c.332_333delTCinsGG | p.I111R | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436786_66436787delTCinsGG | c.332_333delTCinsGG | p.I111R | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66436786_66436787delTCinsGG | c.332_333delTCinsGG | p.I111R | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436786_66436787delTCinsGG | c.332_333delTCinsGG | p.I111R | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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