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Gene MAP2K1
Variant K57E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 K57E lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). K57E confers a gain of function to Map2k1 as demonstrated by increased activation of downstream Erk1/2 (PMID: 24463458, PMID: 25370473) and increased transformation in cultured cells and increased proliferation in a competition assay (PMID: 36442478), and is associated with Braf inhibitor resistance in cell culture (PMID: 24463458, PMID: 25370473, PMID: 36442478).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 K57E

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Transcript NM_002755.4
gDNA chr15:g.66435115A>G
cDNA c.169A>G
Protein p.K57E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.4 chr15:g.66435115A>G c.169A>G p.K57E RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435115A>G c.169A>G p.K57E RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435115A>G c.169A>G p.K57E RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435115A>G c.169A>G p.K57E RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435115A>G c.169A>G p.K57E RefSeq GRCh38/hg38
NM_002755 chr15:g.66435115A>G c.169A>G p.K57E 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...