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| Gene | MAP2K1 |
| Variant | K57_G61del |
| Impact List | deletion |
| Protein Effect | gain of function |
| Gene Variant Descriptions | MAP2K1 K57_G61del results in the deletion of five amino acids of the Map2k1 protein from amino acids 57 to 61 (UniProt.org). K57_G61del results in proliferation in low serum conditions similar to wild-type Map2k1 (PMID: 36442478), but increased Erk phosphorylation in cultured cells (PMID: 32641410), increased proliferation in high serum conditions in a competition assay, and increased transformation in culture (PMID: 36442478). |
| Associated Drug Resistance | |
| Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 K57_G61del |
| Transcript | NM_002755.4 |
| gDNA | chr15:g.66435115_66435129del15 |
| cDNA | c.169_183del15 |
| Protein | p.K57_G61del |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_017022411.2 | chr15:g.66435115_66435129del15 | c.169_183del15 | p.K57_G61del | RefSeq | GRCh38/hg38 |
| NM_002755.3 | chr15:g.66435115_66435129del15 | c.169_183del15 | p.K57_G61del | RefSeq | GRCh38/hg38 |
| NM_002755.4 | chr15:g.66435115_66435129del15 | c.169_183del15 | p.K57_G61del | RefSeq | GRCh38/hg38 |
| XM_017022411.3 | chr15:g.66435115_66435129del15 | c.169_183del15 | p.K57_G61del | RefSeq | GRCh38/hg38 |
| NM_002755 | chr15:g.66435115_66435129del15 | c.169_183del15 | p.K57_G61del | RefSeq | GRCh38/hg38 |
| XM_017022411 | chr15:g.66435115_66435129del15 | c.169_183del15 | p.K57_G61del | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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