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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

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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_017022411.3 chr15:g.66436746_66436763del18 c.292_309del18 p.L98_I103delLIHLEI RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66436812_66436829del18 c.292_309del18 p.E98_Y103delECNSPY RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66436812_66436829del18 c.292_309del18 p.E98_Y103delECNSPY 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 chr15:g.66485116_66485133del18 c.292_309del18 p.M98_V103delMFGCQV RefSeq GRCh38/hg38
NM_002755 chr15:g.66436746_66436763del18 c.292_309del18 p.L98_I103delLIHLEI RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436746_66436763del18 c.292_309del18 p.L98_I103delLIHLEI RefSeq GRCh38/hg38
XM_017022411.2 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_017022412.1 chr15:g.66436812_66436829del18 c.292_309del18 p.E98_Y103delECNSPY RefSeq GRCh38/hg38
XM_011521783 chr15:g.66436812_66436829del18 c.292_309del18 p.E98_Y103delECNSPY RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436746_66436763del18 c.292_309del18 p.L98_I103delLIHLEI RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66485116_66485133del18 c.292_309del18 p.M98_V103delMFGCQV RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries