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Gene MAP2K1
Variant E41_L54del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 E41_L54del results in the deletion of 14 amino acids in the Map2k1 protein from amino acids 41 to 54 (UniProt.org). E41_L54del results in increased Map2k1 nuclear localization, elevated Erk phosphorylation, and cell transformation in culture, and promotes tumorigenesis and confers resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion (PMID: 32122926).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 E41_L54del

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Transcript NM_002755.4
gDNA chr15:g.66435067_66435108del42
cDNA c.121_162del42
Protein p.E41_L54del14
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011521783.3 chr15:g.66435133_66435174del42 c.121_162del42 p.L41_A54del14 RefSeq GRCh38/hg38
XM_011521783 chr15:g.66435133_66435174del42 c.121_162del42 p.L41_A54del14 RefSeq GRCh38/hg38
XM_017022412 chr15:g.66435133_66435174del42 c.121_162del42 p.L41_A54del14 RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435067_66435108del42 c.121_162del42 p.E41_L54del14 RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66435133_66435174del42 c.121_162del42 p.L41_A54del14 RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66435133_66435174del42 c.121_162del42 p.L41_A54del14 RefSeq GRCh38/hg38
NM_002755 chr15:g.66435067_66435108del42 c.121_162del42 p.E41_L54del14 RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435067_66435108del42 c.121_162del42 p.E41_L54del14 RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66435133_66435174del42 c.121_162del42 p.L41_A54del14 RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66481835_66481876del42 c.121_162del42 p.D41_M54del14 RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435067_66435108del42 c.121_162del42 p.E41_L54del14 RefSeq GRCh38/hg38
XM_017022413 chr15:g.66481835_66481876del42 c.121_162del42 p.D41_M54del14 RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435067_66435108del42 c.121_162del42 p.E41_L54del14 RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435067_66435108del42 c.121_162del42 p.E41_L54del14 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 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...
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...