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Gene | MAP2K1 |
Variant | K57E |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 K57E lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). K57E confers a gain of function to Map2k1 as demonstrated by increased activation of downstream Erk1/2 (PMID: 24463458, PMID: 25370473) and increased transformation in cultured cells and increased proliferation in a competition assay (PMID: 36442478), and is associated with Braf inhibitor resistance in cell culture (PMID: 24463458, PMID: 25370473, PMID: 36442478). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 K57E |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435115A>G |
cDNA | c.169A>G |
Protein | p.K57E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.3 | chr15:g.66435115A>G | c.169A>G | p.K57E | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66435115A>G | c.169A>G | p.K57E | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66435115A>G | c.169A>G | p.K57E | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66435115A>G | c.169A>G | p.K57E | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66435115A>G | c.169A>G | p.K57E | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66435115A>G | c.169A>G | p.K57E | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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