Gene Variant Detail

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Gene MAP2K1
Variant I139N
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions MAP2K1 I139N lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I139N 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
Category Variants Paths

MAP2K1 mutant MAP2K1 I139N

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Transcript NM_002755.4
gDNA chr15:g.66436870T>A
cDNA c.416T>A
Protein p.I139N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411.3 chr15:g.66436870T>A c.416T>A p.I139N RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436870T>A c.416T>A p.I139N RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436870T>A c.416T>A p.I139N RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66443323T>A c.416T>A p.I139N RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436870T>A c.416T>A p.I139N 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...