Gene Variant Detail

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Gene MAP2K1
Variant I139R
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MAP2K1 I139R lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I139R is predicted to have no effect on Map2k1 protein function as demonstrated by basal kinase activity similar to wild-type Map2k1 in an in vitro assay, and is associated with decreased sensitivity to Mek inhibition (PMID: 12370306).
Associated Drug Resistance

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Transcript NM_002755.3
gDNA chr15:g.66436870_66436871delTCinsGG
cDNA c.416_417delTCinsGG
Protein p.I139R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.3 chr15:g.66436870_66436871delTCinsGG c.416_417delTCinsGG p.I139R RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 I139R Advanced Solid Tumor decreased response CI-1040 Preclinical - Biochemical Actionable In a preclinical study, MAP2K1 I139R demonstrated decreased sensitivity to CI-1040 (PD184352) in an in vitro kinase assay (PMID: 12370306). 12370306
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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). 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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). detail...
Molecular Profile Protein Effect Treatment Approaches
MAP2K1 I139R no effect - predicted