Gene Variant Detail

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Gene MAP2K1
Variant I111P
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions MAP2K1 I111P lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I111P is predicted to confer a gain of function to the Map2k1 protein, as demonstrated by increased Map2k1 kinase activity in an in-vitro assay and is also associated with resistance to inhibitors (PMID: 12370306).
Associated Drug Resistance Y

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Transcript NM_002755.3
gDNA chr15:g.66436785_66436786delATinsCC
cDNA c.331_332delATinsCC
Protein p.I111P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755 chr15:g.66436785_66436786delATinsCC c.331_332delATinsCC p.I111P RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436785_66436786delATinsCC c.331_332delATinsCC p.I111P RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436785_66436786delATinsCC c.331_332delATinsCC p.I111P RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436785_66436786delATinsCC c.331_332delATinsCC p.I111P RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 I111P gain of function - predicted