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Gene | MAP2K1 |
Variant | L98_I103del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 L98_I103del results in the deletion of six amino acids in the Map2k1 protein from amino acids 98 to 103 (UniProt.org). L98_I103del confers a gain of function to the Map2k1 protein as demonstrated by activity independent of Raf and increased phosphorylation of Mek and Erk relative to wild-type Map2k1 in vitro (PMID: 29483135). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 L98_I103del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436746_66436763del18 |
cDNA | c.292_309del18 |
Protein | p.L98_I103delLIHLEI |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011521783 | chr15:g.66436812_66436829del18 | c.292_309del18 | p.E98_Y103delECNSPY | RefSeq | GRCh38/hg38 |
XM_017022413 | chr15:g.66485116_66485133del18 | c.292_309del18 | p.M98_V103delMFGCQV | RefSeq | GRCh38/hg38 |
XM_011521783.4 | chr15:g.66436812_66436829del18 | c.292_309del18 | p.E98_Y103delECNSPY | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66436746_66436763del18 | c.292_309del18 | p.L98_I103delLIHLEI | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436746_66436763del18 | c.292_309del18 | p.L98_I103delLIHLEI | RefSeq | GRCh38/hg38 |
XM_011521783.3 | chr15:g.66436812_66436829del18 | c.292_309del18 | p.E98_Y103delECNSPY | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436746_66436763del18 | c.292_309del18 | p.L98_I103delLIHLEI | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436746_66436763del18 | c.292_309del18 | p.L98_I103delLIHLEI | RefSeq | GRCh38/hg38 |
XM_017022412 | chr15:g.66436812_66436829del18 | c.292_309del18 | p.E98_Y103delECNSPY | RefSeq | GRCh38/hg38 |
XM_017022413.1 | chr15:g.66485116_66485133del18 | c.292_309del18 | p.M98_V103delMFGCQV | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436746_66436763del18 | c.292_309del18 | p.L98_I103delLIHLEI | RefSeq | GRCh38/hg38 |
XM_017022412.1 | chr15:g.66436812_66436829del18 | c.292_309del18 | p.E98_Y103delECNSPY | RefSeq | GRCh38/hg38 |
NM_001411065.1 | chr15:g.66436812_66436829del18 | c.292_309del18 | p.E98_Y103delECNSPY | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436746_66436763del18 | c.292_309del18 | p.L98_I103delLIHLEI | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 L98_I103del | gain of function |