Gene Variant Detail

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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

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Transcript NM_002755.3
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_017022412.1 chr15:g.66436846_66436860del15 c.326_340del15 p.G109_S113delGAFYS RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436779_66436793del15 c.325_339del15 p.N109_R113delNQIIR RefSeq GRCh38/hg38
XM_017022411.2 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
XM_017022413.1 chr15:g.66485149_66485163del15 c.325_339del15 p.E109_R113delETPPR RefSeq GRCh38/hg38
NM_002755 chr15:g.66436779_66436793del15 c.325_339del15 p.N109_R113delNQIIR RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66436846_66436860del15 c.326_340del15 p.G109_S113delGAFYS RefSeq GRCh38/hg38
XM_011521783 chr15:g.66436846_66436860del15 c.326_340del15 p.G109_S113delGAFYS RefSeq GRCh38/hg38
XM_017022413 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

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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 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 N109_R113del gain of function MEK inhibitor (Pan) MEK1 Inhibitor