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Gene | MAP2K1 |
Variant | S218D |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 S218D lies within the protein kinase domain of the Map2k1 protein (UniProt.org). S218D confers a gain of function to the Map2k1 protein as indicated by increased Map2k1 activity in the absence of growth factor, cell growth in culture, and tumor formation in mouse models (PMID: 7936666). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 S218D |
Transcript | NM_002755.4 |
gDNA | chr15:g.66481838_66481839delTCinsGA |
cDNA | c.652_653delTCinsGA |
Protein | p.S218D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |