Gene Variant Detail

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Gene MAP2K1
Variant P105_I107del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions MAP2K1 P105_I107del results in the deletion of three amino acids in the protein kinase domain of the Map2k1 protein from amino acids 105 to 107 (UniProt.org). P105_I107del has been identified in the scientific literature (PMID: 30867592), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Jan 2021).
Associated Drug Resistance

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Transcript NM_002755.3
gDNA chr15:g.66436768_66436776delCCGCAATCC
cDNA c.314_322delCCGCAATCC
Protein p.P105_I107delPAI
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011521783 chr15:g.66436833_66436841delGTGGGCTTC c.313_321delGTGGGCTTC p.V105_F107delVGF RefSeq GRCh38/hg38
NM_002755 chr15:g.66436768_66436776delCCGCAATCC c.314_322delCCGCAATCC p.P105_I107delPAI RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436768_66436776delCCGCAATCC c.314_322delCCGCAATCC p.P105_I107delPAI RefSeq GRCh38/hg38
XM_017022413 chr15:g.66485138_66485146delGAGATGCGG c.314_322delGAGATGCGG p.G105_A107delGDA RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436768_66436776delCCGCAATCC c.314_322delCCGCAATCC p.P105_I107delPAI RefSeq GRCh38/hg38
XM_017022412 chr15:g.66436833_66436841delGTGGGCTTC c.313_321delGTGGGCTTC p.V105_F107delVGF RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66436833_66436841delGTGGGCTTC c.313_321delGTGGGCTTC p.V105_F107delVGF RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436768_66436776delCCGCAATCC c.314_322delCCGCAATCC p.P105_I107delPAI RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66436833_66436841delGTGGGCTTC c.313_321delGTGGGCTTC p.V105_F107delVGF RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66485138_66485146delGAGATGCGG c.314_322delGAGATGCGG p.G105_A107delGDA RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 P105_I107del lymphatic system cancer predicted - sensitive Cobimetinib Case Reports/Case Series Actionable In a Phase II trial, treatment with Cotellic (cobimetinib) in patients with histiocytic neoplasms resulted in a PET overall response rate of 89% (16/18), with complete response in 72% (13/18) and partial response in 17% (3/18), and resulted in stable disease in 6% (1/18) of patients, including a complete response in a patient with Erdheim-Chester disease harboring MAP2K1 P105_I107del (PMID: 30867592; NCT01953926). 30867592
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 P105_I107del unknown