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| Gene | MAP2K1 |
| Variant | C121S |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | MAP2K1 C121S lies within the protein kinase domain of the Map2k1 protein (UniProt.org). C121S confers a gain of function on the Map2k1 protein as demonstrated by increased Erk1/2 (PMID: 25899310) and Mek phosphorylation in culture and confers acquired resistance to Raf and Mek inhibitors (PMID: 21383288, PMID: 24448821, PMID: 29483135, PMID: 29753091). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 C121S |
| Transcript | NM_002755.4 |
| gDNA | chr15:g.66436815T>A |
| cDNA | c.361T>A |
| Protein | p.C121S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002755.3 | chr15:g.66436815T>A | c.361T>A | p.C121S | RefSeq | GRCh38/hg38 |
| XM_017022411 | chr15:g.66436815T>A | c.361T>A | p.C121S | RefSeq | GRCh38/hg38 |
| NM_002755.4 | chr15:g.66436815T>A | c.361T>A | p.C121S | RefSeq | GRCh38/hg38 |
| XM_017022411.3 | chr15:g.66436815T>A | c.361T>A | p.C121S | RefSeq | GRCh38/hg38 |
| NM_002755 | chr15:g.66436815T>A | c.361T>A | p.C121S | RefSeq | GRCh38/hg38 |
| XM_017022411.2 | chr15:g.66436815T>A | c.361T>A | p.C121S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| MAP2K1 C121S | gain of function | |
| BRAF V600E MAP2K1 C121S | ||
| MAP2K1 C121S MAP2K1 P124R |