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Gene MAP2K1
Variant E41_F53del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions MAP2K1 E41_F53del results in the deletion of 13 amino acids in the Map2k1 protein from amino acids 41 to 53 (UniProt.org). E41_F53del has been identified in the scientific literature (PMID: 32483240, PMID: 33289976), 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 E41_F53del

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Transcript NM_002755.4
gDNA chr15:g.66435067_66435105del39
cDNA c.121_159del39
Protein p.E41_F53del13
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755 chr15:g.66435067_66435105del39 c.121_159del39 p.E41_F53del RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435067_66435105del39 c.121_159del39 p.E41_F53del RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435067_66435105del39 c.121_159del39 p.E41_F53del RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435067_66435105del39 c.121_159del39 p.E41_F53del13 RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435067_66435105del39 c.121_159del39 p.E41_F53del13 RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435067_66435105del39 c.121_159del39 p.E41_F53del RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66435133_66435171del39 c.121_159del39 p.L41_G53del13 RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66435133_66435171del39 c.121_159del39 p.L41_G53del13 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...