Gene Variant Detail

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Gene MAP2K1
Variant L115A
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions MAP2K1 L115A lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L115A is predicted to confer a gain of function to the Map2k1 protein, as demonstrated by increased kinase activity in an in-vitro assay (PMID: 12370306) and is also associated with decreased binding and partial response to Mek inhibitors (PMID: 12370306).
Associated Drug Resistance

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Transcript NM_002755.3
gDNA chr15:g.66436797_66436798delCTinsGC
cDNA c.343_344delCTinsGC
Protein p.L115A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411 chr15:g.66436797_66436798delCTinsGC c.343_344delCTinsGC p.L115A RefSeq GRCh38/hg38
NM_002755 chr15:g.66436797_66436798delCTinsGC c.343_344delCTinsGC p.L115A RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436797_66436798delCTinsGC c.343_344delCTinsGC p.L115A RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436797_66436798delCTinsGC c.343_344delCTinsGC p.L115A RefSeq GRCh38/hg38

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  • 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 L115A Advanced Solid Tumor decreased response CI-1040 Preclinical - Cell culture Actionable In a preclinical study, CI-1040 (PD184352) partially inhibited kinase activity of Map2k1 L115A expressed in transformed human kidney cells (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 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...
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...
Molecular Profile Protein Effect Treatment Approaches
MAP2K1 L115A gain of function - predicted