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Gene | MAP2K1 |
Variant | K57T |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 K57T lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). K57T confers a gain of function to Map2k1 as demonstrated by increased Erk1/2 phosphorylation (PMID: 30341394, PMID: 32641410) and transformation activity in cultured cells and increased proliferation in a competition assay (PMID: 36442478), and occurs as a secondary drug resistance mutation in the context of BRAF inhibitors (PMID: 26644315, PMID: 28819429, PMID: 30341394). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 K57T |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435116A>C |
cDNA | c.170A>C |
Protein | p.K57T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.3 | chr15:g.66435116A>C | c.170A>C | p.K57T | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66435116A>C | c.170A>C | p.K57T | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66435116A>C | c.170A>C | p.K57T | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66435116A>C | c.170A>C | p.K57T | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66435116A>C | c.170A>C | p.K57T | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66435116A>C | c.170A>C | p.K57T | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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