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Gene | MAP2K1 |
Variant | L118P |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MAP2K1 L118P lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L118P is associated with MEK inhibitor resistance and results in decreased basal kinase activity in an in vitro assay (PMID: 12370306), and therefore, its predicted to lead to a loss of Map2k1 protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 inact mut MAP2K1 L118P |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436807T>C |
cDNA | c.353T>C |
Protein | p.L118P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411.2 | chr15:g.66436807T>C | c.353T>C | p.L118P | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436807T>C | c.353T>C | p.L118P | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436807T>C | c.353T>C | p.L118P | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436807T>C | c.353T>C | p.L118P | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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