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Gene | MAP2K1 |
Variant | C121S |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 C121S lies within the protein kinase domain of the Map2k1 protein (UniProt.org). C121S confers a gain of function on the Map2k1 protein as demonstrated by increased Erk1/2 (PMID: 25899310) and Mek phosphorylation in culture and confers acquired resistance to Raf and Mek inhibitors (PMID: 21383288, PMID: 24448821, PMID: 29483135, PMID: 29753091). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 C121S |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436815T>A |
cDNA | c.361T>A |
Protein | p.C121S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |