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Gene MAP2K1
Variant L115R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MAP2K1 L115R lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L115R has been described as a drug resistance mutation (PMID: 19915144), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 L115R

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Transcript NM_002755.4
gDNA chr15:g.66436798T>G
cDNA c.344T>G
Protein p.L115R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.4 chr15:g.66436798T>G c.344T>G p.L115R RefSeq GRCh38/hg38
NM_002755 chr15:g.66436798T>G c.344T>G p.L115R RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436798T>G c.344T>G p.L115R RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436798T>G c.344T>G p.L115R RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436798T>G c.344T>G p.L115R RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436798T>G c.344T>G p.L115R 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...