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Gene MAP2K1
Variant N109_R113del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 N109_R113del results in the deletion of five amino acids in the protein kinase domain of the Map2k1 protein from amino acids 109 to 113 (UniProt.org). N109_R113del confers a gain of function to the Map2k1 protein as indicated by increased Erk phosphorylation (PMID: 32641410, PMID: 30393068), and Mek phosphorylation in cultured cells (PMID: 30393068).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 N109_R113del

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Transcript NM_002755.4
gDNA chr15:g.66436779_66436793del15
cDNA c.325_339del15
Protein p.N109_R113delNQIIR
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411.2 chr15:g.66436779_66436793del15 c.325_339del15 p.N109_R113delNQIIR RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436779_66436793del15 c.325_339del15 p.N109_R113delNQIIR RefSeq GRCh38/hg38
XM_011521783 chr15:g.66436846_66436860del15 c.326_340del15 p.G109_S113delGAFYS RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66436846_66436860del15 c.326_340del15 p.G109_S113delGAFYS RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66485149_66485163del15 c.325_339del15 p.E109_R113delETPPR RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436779_66436793del15 c.325_339del15 p.N109_R113delNQIIR RefSeq GRCh38/hg38
XM_017022413 chr15:g.66485149_66485163del15 c.325_339del15 p.E109_R113delETPPR RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66436846_66436860del15 c.326_340del15 p.G109_S113delGAFYS RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66436846_66436860del15 c.326_340del15 p.G109_S113delGAFYS RefSeq GRCh38/hg38
NM_002755 chr15:g.66436779_66436793del15 c.325_339del15 p.N109_R113delNQIIR RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436779_66436793del15 c.325_339del15 p.N109_R113delNQIIR RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66436846_66436860del15 c.326_340del15 p.G109_S113delGAFYS RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436779_66436793del15 c.325_339del15 p.N109_R113delNQIIR RefSeq GRCh38/hg38
XM_017022412 chr15:g.66436846_66436860del15 c.326_340del15 p.G109_S113delGAFYS 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 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...