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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
XM_017022411.3 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
NM_002755.3 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
XM_017022411 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

Filtering

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  • Use simple literal full or partial string matches
  • 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")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 P124Q lymphatic system cancer predicted - sensitive Cobimetinib Case Reports/Case Series Actionable In a Phase II trial, treatment with Cotellic (cobimetinib) in patients with histiocytic neoplasms resulted in a PET overall response rate of 89% (16/18), with complete response in 72% (13/18) and partial response in 17% (3/18), and resulted in stable disease in 6% (1/18) of patients, including a complete response in a patient with Erdheim-Chester disease harboring MAP2K1 P124Q (PMID: 30867592; NCT01953926). 30867592