Gene Variant Detail

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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), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Dec 2020).
Associated Drug Resistance

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Transcript NM_002755.3
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_F53del13 RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66435133_66435171del39 c.121_159del39 p.L41_G53del13 RefSeq GRCh38/hg38
XM_011521783 chr15:g.66435133_66435171del39 c.121_159del39 p.L41_G53del13 RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66435133_66435171del39 c.121_159del39 p.L41_G53del13 RefSeq GRCh38/hg38
XM_017022411 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_F53del13 RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435067_66435105del39 c.121_159del39 p.E41_F53del13 RefSeq GRCh38/hg38
XM_017022413 chr15:g.66481835_66481873del39 c.121_159del39 p.D41_Y53del13 RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66481835_66481873del39 c.121_159del39 p.D41_Y53del13 RefSeq GRCh38/hg38
XM_017022412 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
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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). 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, PIK3CA, or with no detectable mutations, or for whom testing is not available (NCCN Guidelines). detail...
Molecular Profile Protein Effect Treatment Approaches
MAP2K1 E41_F53del unknown