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Gene | MAP2K1 |
Variant | F53L |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 F53L lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). F53L results in activation of Map2k1 as indicated by increased Erk and Mek phosphorylation (PMID: 25164765, PMID: 29483135), increased Rsk phosphorylation (PMID: 25351745), transformation activity in culture (PMID: 25351745, PMID: 36442478), and increased proliferation in a competition assay (PMID: 36442478), and demonstrates resistance to some Mek and Braf inhibitors (PMID: 29753091, PMID: 36442478). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 F53L |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435103T>C |
cDNA | c.157T>C |
Protein | p.F53L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755 | chr15:g.66435103T>C | c.157T>C | p.F53L | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66435103T>C | c.157T>C | p.F53L | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66435103T>C | c.157T>C | p.F53L | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66435103T>C | c.157T>C | p.F53L | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66435103T>C | c.157T>C | p.F53L | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66435103T>C | c.157T>C | p.F53L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 F53L | gain of function | MEK inhibitor (Pan) MEK1 Inhibitor |
BRAF V600E MAP2K1 F53L |