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Gene | MAP2K1 |
Variant | L177V |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | MAP2K1 L177V lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L177V results in weak phosphorylation of Erk (PMID: 32641410, PMID: 29483135) and phosphorylation of Mek in culture (PMID: 29483135), and therefore, is predicted to lead to a gain of map2k1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 L177V |
Transcript | NM_002755.4 |
gDNA | chr15:g.66444668C>G |
cDNA | c.529C>G |
Protein | p.L177V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755 | chr15:g.66444668C>G | c.529C>G | p.L177V | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66444668C>G | c.529C>G | p.L177V | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66444668C>G | c.529C>G | p.L177V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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