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| Gene | MAP2K1 |
| Variant | E144K |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | MAP2K1 E144K lies within the protein kinase domain of the Map2k1 protein (UniProt.org). E144K confers a gain of function to the Map2k1 protein as demonstrated by increased Mek and Erk phosphorylation relative to wild-type Map2k1 (PMID: 26566875). |
| Associated Drug Resistance | |
| Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 E144K |
| Transcript | NM_002755.4 |
| gDNA | chr15:g.66436884G>A |
| cDNA | c.430G>A |
| Protein | p.E144K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002755 | chr15:g.66436884G>A | c.430G>A | p.E144K | RefSeq | GRCh38/hg38 |
| XM_017022413.1 | chr15:g.66487290G>A | c.430G>A | p.E144K | RefSeq | GRCh38/hg38 |
| XM_017022411.2 | chr15:g.66436884G>A | c.430G>A | p.E144K | RefSeq | GRCh38/hg38 |
| NM_002755.3 | chr15:g.66436884G>A | c.430G>A | p.E144K | RefSeq | GRCh38/hg38 |
| XM_017022413 | chr15:g.66487290G>A | c.430G>A | p.E144K | RefSeq | GRCh38/hg38 |
| XM_017022411.3 | chr15:g.66436884G>A | c.430G>A | p.E144K | RefSeq | GRCh38/hg38 |
| NM_002755.4 | chr15:g.66436884G>A | c.430G>A | p.E144K | RefSeq | GRCh38/hg38 |
| XM_017022411 | chr15:g.66436884G>A | c.430G>A | p.E144K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| MAP2K1 E144K | gain of function | MEK inhibitor (Pan) MEK1 Inhibitor |