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| Gene | MAP2K1 |
| Variant | F53S |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | MAP2K1 F53S lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). F53S demonstrates phosphorylation profile similar to wild-type Map2k1 (PMID: 29753091), and results in increased Erk phosphorylation in cell culture (PMID: 16439621, PMID: 12370306). |
| Associated Drug Resistance | |
| Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 F53S |
| Transcript | NM_002755.4 |
| gDNA | chr15:g.66435104T>C |
| cDNA | c.158T>C |
| Protein | p.F53S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002755.4 | chr15:g.66435104T>C | c.158T>C | p.F53S | RefSeq | GRCh38/hg38 |
| XM_017022411.2 | chr15:g.66435104T>C | c.158T>C | p.F53S | RefSeq | GRCh38/hg38 |
| XM_017022411 | chr15:g.66435104T>C | c.158T>C | p.F53S | RefSeq | GRCh38/hg38 |
| NM_002755.3 | chr15:g.66435104T>C | c.158T>C | p.F53S | RefSeq | GRCh38/hg38 |
| XM_017022411.3 | chr15:g.66435104T>C | c.158T>C | p.F53S | RefSeq | GRCh38/hg38 |
| NM_002755 | chr15:g.66435104T>C | c.158T>C | p.F53S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| MAP2K1 F53S | gain of function | MEK inhibitor (Pan) MEK1 Inhibitor |
| BRAF V600E MAP2K1 F53S |