Gene Variant Detail

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Gene MAP2K1
Variant I111D
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions MAP2K1 I111D lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I111D is predicted to confer a gain of function to the Map2k1 protein as demonstrated by increased basal Map2k1 kinase activity in an in vitro assay and is associated with resistance to Mek inhibition (PMID: 12370306).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 I111D

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Transcript NM_002755.4
gDNA chr15:g.66436785_66436786delATinsGA
cDNA c.331_332delATinsGA
Protein p.I111D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411.3 chr15:g.66436785_66436786delATinsGA c.331_332delATinsGA p.I111D RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436785_66436786delATinsGA c.331_332delATinsGA p.I111D RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436785_66436786delATinsGA c.331_332delATinsGA p.I111D RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436785_66436786delATinsGA c.331_332delATinsGA p.I111D RefSeq GRCh38/hg38

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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...