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Gene | MAP2K1 |
Variant | N122D |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | MAP2K1 N122D lies within the protein kinase domain of the Map2k1 protein (UniProt.org). N122D results in increased Erk phosphorylation in cultured cells (PMID: 32641410), 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 N122D |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436818A>G |
cDNA | c.364A>G |
Protein | p.N122D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755 | chr15:g.66436818A>G | c.364A>G | p.N122D | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436818A>G | c.364A>G | p.N122D | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436818A>G | c.364A>G | p.N122D | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436818A>G | c.364A>G | p.N122D | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436818A>G | c.364A>G | p.N122D | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436818A>G | c.364A>G | p.N122D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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