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Gene MAP2K1
Variant K57N
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 K57N lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). K57N confers a gain of function to Map2k1 as demonstrated by increased autophosphorylation (PMID: 29753091) and Erk phosphorylation (PMID: 18632602, PMID: 29753091), increased cell proliferation and cell viability in two different cell lines (PMID: 29533785, PMID: 18632602), transformation of cultured cells (PMID: 25351745, PMID: 36442478), increased proliferation in a competition assay (PMID: 36442478), and demonstrates resistance to some Mek and Braf inhibitors (PMID: 29753091, PMID: 36442478).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 K57N

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Transcript NM_002755.4
gDNA chr15:g.66435117G>C
cDNA c.171G>C
Protein p.K57N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411 chr15:g.66435117G>C c.171G>C p.K57N RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435117G>C c.171G>C p.K57N RefSeq GRCh38/hg38
NM_002755 chr15:g.66435117G>C c.171G>C p.K57N RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435117G>C c.171G>C p.K57N RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435117G>C c.171G>C p.K57N RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435117G>C c.171G>C p.K57N RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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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...