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Gene | MAP2K1 |
Variant | E120Q |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | MAP2K1 E120Q lies within the protein kinase domain of the Map2k1 protein (UniProt.org). E120Q results in increased Mek phosphorylation in culture (PMID: 26566875), and therefore, is predicted to lead to a gain of Map2k1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 E120Q |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436812G>C |
cDNA | c.358G>C |
Protein | p.E120Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |