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Gene | MAP2K1 |
Variant | K57M |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 K57M lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). K57M results in increased Erk phosphorylation, enhanced cell cycle progression, increased colony formation, and induction of autophagy in cultured cells (PMID: 31972311). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 K57M |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435116A>T |
cDNA | c.170A>T |
Protein | p.K57M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411.2 | chr15:g.66435116A>T | c.170A>T | p.K57M | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66435116A>T | c.170A>T | p.K57M | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66435116A>T | c.170A>T | p.K57M | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66435116A>T | c.170A>T | p.K57M | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66435116A>T | c.170A>T | p.K57M | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66435116A>T | c.170A>T | p.K57M | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 K57M | gain of function |