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Gene | MAP2K1 |
Variant | I111S |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 I111S lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I111S confers a gain of function on the Map2k1 protein as demonstrated by increased autophosphorylation and Erk phosphorylation and also demonstrates resistance to some Mek and Braf inhibitors (PMID: 29753091). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 I111S |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436786T>G |
cDNA | c.332T>G |
Protein | p.I111S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |