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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
NM_002755 chr15:g.66436747_66436764del18 c.293_310del18 . RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436747_66436764del18 c.293_310del18 . RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436747_66436764del18 c.293_310del18 . RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 mutant Erdheim-Chester disease sensitive Trametinib Guideline Actionable Mekinist (trametinib) is included in guidelines as first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org). detail...
MAP2K1 mutant Erdheim-Chester disease sensitive Cobimetinib Guideline Actionable Cotellic (cobimetinib) is included in guidelines as preferred first-line or subsequent-line therapy for patients with Erdheim-Chester disease harboring mutations in the MAPK pathway such as ARAF, NRAS, KRAS, MAP2K1/2, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN.org). detail...