Gene Variant Detail

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Gene MAP2K1
Variant P124Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MAP2K1 P124Q lies within the protein kinase domain of the Map2k1 protein (UniProt.org). P124Q results in increased Erk1/2 phosphorylation in culture, and is associated with decreased sensitivity to Raf inhibition (PMID: 25370473), but demonstrates autophosphorylation and kinase activity similar to wild-type Map2k1 in another study (PMID: 29753091), and therefore, its effect on Map2k1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 P124Q

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Transcript NM_002755.4
gDNA chr15:g.66436825C>A
cDNA c.371C>A
Protein p.P124Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.3 chr15:g.66436825C>A c.371C>A p.P124Q RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436825C>A c.371C>A p.P124Q RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436825C>A c.371C>A p.P124Q RefSeq GRCh38/hg38
NM_002755 chr15:g.66436825C>A c.371C>A p.P124Q RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436825C>A c.371C>A p.P124Q RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436825C>A c.371C>A p.P124Q 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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...