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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, Nov 2024).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 P105_I107del

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Transcript NM_002755.4
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_011521783.4 chr15:g.66436833_66436841delGTGGGCTTC c.313_321delGTGGGCTTC p.V105_F107delVGF RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436768_66436776delCCGCAATCC c.314_322delCCGCAATCC p.P105_I107delPAI RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436768_66436776delCCGCAATCC c.314_322delCCGCAATCC p.P105_I107del RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436768_66436776delCCGCAATCC c.314_322delCCGCAATCC p.P105_I107delPAI RefSeq GRCh38/hg38
NM_002755 chr15:g.66436768_66436776delCCGCAATCC c.314_322delCCGCAATCC p.P105_I107del RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66436833_66436841delGTGGGCTTC c.313_321delGTGGGCTTC p.V105_F107delVGF RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436768_66436776delCCGCAATCC c.314_322delCCGCAATCC p.P105_I107del 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...