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Gene | MAP2K1 |
Variant | V60E |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 V60E does not lie within any known functional domains of the Map2k1 protein (UniProt.org). V60E confers a gain of function to Map2k1 as demonstrated by increased Erk signaling (PMID: 28263969), transformation activity in cultured cells and increased proliferation in a competition assay (PMID: 36442478), and tumor formation in orthotopic mouse models (PMID: 28263969), and demonstrates resistance to some Braf inhibitors (PMID: 24265153, PMID: 28263969, PMID: 36442478). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 V60E |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435125T>A |
cDNA | c.179T>A |
Protein | p.V60E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |