Gene Variant Detail

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Gene MAP2K1
Variant H100_L101del
Impact List deletion
Protein Effect no effect - predicted
Gene Variant Descriptions MAP2K1 H100_L101del results in the deletion of two amino acids in the protein kinase domain of the Map2k1 protein from amino acids 100 to 101 (UniProt.org). H100_L101del induces Erk phosphorylation similar to wild-type Map2k1 in cultured cells (PMID: 32641410), and therefore, is predicted to have no effect on Map2k1 protein function.
Associated Drug Resistance

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Transcript NM_002755.3
gDNA chr15:g.66436752_66436757delCATCTG
cDNA c.298_303delCATCTG
Protein p.H100_L101delHL
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022413 chr15:g.66485122_66485127delGGGTGC c.298_303delGGGTGC p.G100_C101delGC RefSeq GRCh38/hg38
XM_011521783 chr15:g.66436818_66436823delAACTCT c.298_303delAACTCT p.N100_S101delNS RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66485122_66485127delGGGTGC c.298_303delGGGTGC p.G100_C101delGC RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436752_66436757delCATCTG c.298_303delCATCTG p.H100_L101delHL RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66436818_66436823delAACTCT c.298_303delAACTCT p.N100_S101delNS RefSeq GRCh38/hg38
NM_002755 chr15:g.66436752_66436757delCATCTG c.298_303delCATCTG p.H100_L101delHL RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66436818_66436823delAACTCT c.298_303delAACTCT p.N100_S101delNS RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436752_66436757delCATCTG c.298_303delCATCTG p.H100_L101delHL RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436752_66436757delCATCTG c.298_303delCATCTG p.H100_L101delHL RefSeq GRCh38/hg38
XM_017022412 chr15:g.66436818_66436823delAACTCT c.298_303delAACTCT p.N100_S101delNS 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 H100_L101del no effect - predicted