Gene Variant Detail

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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

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Transcript NM_002755.3
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_017022411.2 chr15:g.66435067_66435108del42 c.121_162del42 p.E41_L54del14 RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435067_66435108del42 c.121_162del42 p.E41_L54del14 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
XM_011521783 chr15:g.66435133_66435174del42 c.121_162del42 p.L41_A54del14 RefSeq GRCh38/hg38
XM_017022412.1 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_011521783.3 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_017022413.1 chr15:g.66481835_66481876del42 c.121_162del42 p.D41_M54del14 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 E41_L54del lung cancer sensitive Selumetinib Preclinical - Cell culture Actionable In a preclinical study, Koselugo (selumetinib) inhibited growth of transformed human lung cells expressing MAP2K1 E41_L54del in culture (PMID: 32122926). 32122926
MAP2K1 E41_L54del lung cancer no benefit LY3009120 Preclinical - Cell culture Actionable In a preclinical study, transformed human lung cells expressing MAP2K1 E41_L54del were not sensitive to LY3009120 in culture (PMID: 32122926). 32122926
MAP2K1 E41_L54del Advanced Solid Tumor sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited growth of transformed cells expressing MAP2K1 E41_L54del in culture (PMID: 32122926). 32122926
MAP2K1 E41_L54del Advanced Solid Tumor sensitive Selumetinib Preclinical - Cell culture Actionable In a preclinical study, Koselugo (selumetinib) inhibited growth of transformed cells expressing MAP2K1 E41_L54del in culture (PMID: 32122926). 32122926
MAP2K1 E41_L54del lung cancer sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited growth of transformed human lung cells expressing MAP2K1 E41_L54del in culture (PMID: 32122926). 32122926
MAP2K1 E41_L54del Advanced Solid Tumor no benefit LY3009120 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing MAP2K1 E41_L54del were not sensitive to LY3009120 in culture (PMID: 32122926). 32122926
MAP2K1 E41_L54del lung cancer sensitive Cobimetinib Preclinical - Cell culture Actionable In a preclinical study, Cotellic (cobimetinib) inhibited growth of transformed human lung cells expressing MAP2K1 E41_L54del in culture (PMID: 32122926). 32122926
MAP2K1 E41_L54del Advanced Solid Tumor sensitive Cobimetinib Preclinical - Cell culture Actionable In a preclinical study, Cotellic (cobimetinib) inhibited growth of transformed cells expressing MAP2K1 E41_L54del in culture (PMID: 32122926). 32122926
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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). 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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). detail...
Molecular Profile Protein Effect Treatment Approaches
MAP2K1 E41_L54del gain of function MEK inhibitor (Pan) MEK1 Inhibitor