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| Gene | MAP2K1 |
| Variant | I111N |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | MAP2K1 I111N lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I111N is predicted to confer a gain of function to the Map2k1 protein as demonstrated by increased Mek and Erk phosphorylation in cultured cells (PMID: 19915144), and is also associated with resistance to Mek inhibitors (PMID: 19915144, PMID: 28655712). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 I111N |
| Transcript | NM_002755.4 |
| gDNA | chr15:g.66436786T>A |
| cDNA | c.332T>A |
| Protein | p.I111N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002755.3 | chr15:g.66436786T>A | c.332T>A | p.I111N | RefSeq | GRCh38/hg38 |
| NM_002755 | chr15:g.66436786T>A | c.332T>A | p.I111N | RefSeq | GRCh38/hg38 |
| XM_017022411.2 | chr15:g.66436786T>A | c.332T>A | p.I111N | RefSeq | GRCh38/hg38 |
| XM_017022411.3 | chr15:g.66436786T>A | c.332T>A | p.I111N | RefSeq | GRCh38/hg38 |
| XM_017022411 | chr15:g.66436786T>A | c.332T>A | p.I111N | RefSeq | GRCh38/hg38 |
| NM_002755.4 | chr15:g.66436786T>A | c.332T>A | p.I111N | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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