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Gene | MAP2K1 |
Variant | N109_R113del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 N109_R113del results in the deletion of five amino acids in the protein kinase domain of the Map2k1 protein from amino acids 109 to 113 (UniProt.org). N109_R113del confers a gain of function to the Map2k1 protein as indicated by increased Erk phosphorylation (PMID: 32641410, PMID: 30393068), and Mek phosphorylation in cultured cells (PMID: 30393068). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 N109_R113del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436779_66436793del15 |
cDNA | c.325_339del15 |
Protein | p.N109_R113delNQIIR |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |