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| Gene | MAP2K1 |
| Variant | G61_D65del |
| Impact List | deletion |
| Protein Effect | gain of function |
| Gene Variant Descriptions | MAP2K1 G61_D65del results in the deletion of five amino acids in the Map2k1 protein from amino acids 61 to 65 (UniProt.org). G61_D65del confers a gain of function to Map2k1 as demonstrated by increased proliferation in a competition assay and increased transformation activity in cultured cells (PMID: 36442478). |
| Associated Drug Resistance | |
| Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 G61_D65del |
| Transcript | NM_002755.4 |
| gDNA | chr15:g.66435128_66435142del15 |
| cDNA | c.182_196del15 |
| Protein | p.G61_D65delGELKD |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011521783.4 | chr15:g.66435193_66435207del15 | c.181_195del15 | p.F61_H65delFKVSH | RefSeq | GRCh38/hg38 |
| NM_002755.4 | chr15:g.66435128_66435142del15 | c.182_196del15 | p.G61_D65delGELKD | RefSeq | GRCh38/hg38 |
| NM_001411065.1 | chr15:g.66435193_66435207del15 | c.181_195del15 | p.F61_H65delFKVSH | RefSeq | GRCh38/hg38 |
| XM_017022411.2 | chr15:g.66435128_66435142del15 | c.182_196del15 | p.G61_D65del | RefSeq | GRCh38/hg38 |
| XM_017022411.3 | chr15:g.66435128_66435142del15 | c.182_196del15 | p.G61_D65delGELKD | RefSeq | GRCh38/hg38 |
| NM_002755.3 | chr15:g.66435128_66435142del15 | c.182_196del15 | p.G61_D65del | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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