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| Gene | MAP2K1 |
| Variant | D65N |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | MAP2K1 D65N does not lie within any known functional domains of the Map2k1 protein (UniProt.org). D65N results in increased Mek phosphorylation in culture (PMID: 26566875), and therefore, its effect on Map2k1 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 D65N |
| Transcript | NM_002755.4 |
| gDNA | chr15:g.66435139G>A |
| cDNA | c.193G>A |
| Protein | p.D65N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002755.4 | chr15:g.66435139G>A | c.193G>A | p.D65N | RefSeq | GRCh38/hg38 |
| XM_017022411.2 | chr15:g.66435139G>A | c.193G>A | p.D65N | RefSeq | GRCh38/hg38 |
| NM_002755.3 | chr15:g.66435139G>A | c.193G>A | p.D65N | RefSeq | GRCh38/hg38 |
| XM_017022411.3 | chr15:g.66435139G>A | c.193G>A | p.D65N | RefSeq | GRCh38/hg38 |
| XM_017022411 | chr15:g.66435139G>A | c.193G>A | p.D65N | RefSeq | GRCh38/hg38 |
| NM_002755 | chr15:g.66435139G>A | c.193G>A | p.D65N | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| MAP2K1 D65N | gain of function - predicted | MEK inhibitor (Pan) MEK1 Inhibitor |