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Gene | MAP2K1 |
Variant | E203K |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 E203K lies within the protein kinase domain of the Map2k1 protein (UniProt.org). E203K confers a gain of function to the Map2k1 protein as demonstrated by constitutive Erk phosphorylation (PMID: 22197931, PMID: 29483135) and cell transformation in culture (PMID: 22197931), and is associated with drug resistance in the context of BRAF V600E in culture (PMID: 28986383). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 E203K |
Transcript | NM_002755.4 |
gDNA | chr15:g.66481793G>A |
cDNA | c.607G>A |
Protein | p.E203K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.4 | chr15:g.66481793G>A | c.607G>A | p.E203K | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66481793G>A | c.607G>A | p.E203K | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66481793G>A | c.607G>A | p.E203K | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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