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Gene MAP2K1
Variant F53I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 F53I lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). F53I results in prolferation in low serum conditions similar to wild-type Map2k1 in a competition assay (PMID: 36442478), but confers a gain of function to Map2k1 as demonstrated by increased Erk phosphorylation in cultured cells (PMID: 32641410), increased proliferation in a competition assay in normal serum conditions, and increased transformation activity in cultured cells (PMID: 36442478).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 F53I

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Transcript NM_002755.4
gDNA chr15:g.66435103T>A
cDNA c.157T>A
Protein p.F53I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.3 chr15:g.66435103T>A c.157T>A p.F53I RefSeq GRCh38/hg38
NM_002755 chr15:g.66435103T>A c.157T>A p.F53I RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435103T>A c.157T>A p.F53I RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435103T>A c.157T>A p.F53I RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435103T>A c.157T>A p.F53I RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435103T>A c.157T>A p.F53I 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 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...