MAP2K1 L42_K57del
Gene Variant Detail

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Gene MAP2K1
Variant L42_K57del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 L42_K57del results in the deletion of 16 amino acids in the Map2k1 protein from amino acids 42 to 57 (UniProt.org). L42_K57del confers a gain of function to Map2k1 as demonstrated by increased proliferation in a competition assay and increased transformation activity in cultured cells (PMID: 36442478).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 L42_K57del

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Transcript NM_002755.4
gDNA chr15:g.66435071_66435118del48
cDNA c.125_172del48
Protein p.L42_K57del16
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.3 chr15:g.66435071_66435118del48 c.125_172del48 p.L42_K57del RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66435136_66435183del48 c.124_171del48 p.K42_G57del16 RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66435136_66435183del48 c.124_171del48 p.K42_G57del16 RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435071_66435118del48 c.125_172del48 p.L42_K57del RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435071_66435118del48 c.125_172del48 p.L42_K57del16 RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435071_66435118del48 c.125_172del48 p.L42_K57del16 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 follicular lymphoma not applicable N/A Guideline Diagnostic MAP2K1 mutations aid in the diagnosis of follicular lymphoma (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...