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Gene MAP2K1
Variant L98_K104delinsQ
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 L98_K104delinsQ results in the deletion of seven amino acids in the protein kinase domain of the Map2k1 protein from amino acids 98 to 104, combined with the insertion of a glutamine (Q) at the same site (UniProt.org). L98_K104delinsQ results in increased activation of Map2k1 and elevated phosphorylation of Erk and Akt in culture (PMID: 29768711), and has been demonstrated to confer resistance to Mek inhibitors (PMID: 29768711).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 L98_K104delinsQ

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Transcript NM_002755.4
gDNA chr15:g.66436747_66436764del18
cDNA c.293_310del18
Protein .
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411.3 chr15:g.66436747_66436764del18 c.293_310del18 . RefSeq GRCh38/hg38
NM_002755 chr15:g.66436747_66436764del18 c.293_310del18 . RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436747_66436764del18 c.293_310del18 . RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • 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")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries