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Gene | MAP2K1 |
Variant | I111N |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | MAP2K1 I111N lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I111N is predicted to confer a gain of function to the Map2k1 protein as demonstrated by increased Mek and Erk phosphorylation in cultured cells (PMID: 19915144), and is also associated with resistance to Mek inhibitors (PMID: 19915144, PMID: 28655712). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 I111N |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436786T>A |
cDNA | c.332T>A |
Protein | p.I111N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |