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
Category Variants Paths

MAP2K1 mutant MAP2K1 H100_L101del

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Transcript NM_002755.4
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_011521783.3 chr15:g.66436818_66436823delAACTCT c.298_303delAACTCT p.N100_S101delNS RefSeq GRCh38/hg38
XM_011521783 chr15:g.66436818_66436823delAACTCT c.298_303delAACTCT p.N100_S101delNS RefSeq GRCh38/hg38
XM_017022412 chr15:g.66436818_66436823delAACTCT c.298_303delAACTCT p.N100_S101delNS RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436752_66436757delCATCTG c.298_303delCATCTG p.H100_L101delHL RefSeq GRCh38/hg38
NM_002755 chr15:g.66436752_66436757delCATCTG c.298_303delCATCTG p.H100_L101delHL RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66436818_66436823delAACTCT c.298_303delAACTCT p.N100_S101delNS RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436752_66436757delCATCTG c.298_303delCATCTG p.H100_L101delHL RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436752_66436757delCATCTG c.298_303delCATCTG p.H100_L101delHL RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66485122_66485127delGGGTGC c.298_303delGGGTGC p.G100_C101delGC RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66436818_66436823delAACTCT c.298_303delAACTCT p.N100_S101delNS RefSeq GRCh38/hg38
XM_017022413 chr15:g.66485122_66485127delGGGTGC c.298_303delGGGTGC p.G100_C101delGC RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66436818_66436823delAACTCT c.298_303delAACTCT p.N100_S101delNS RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436752_66436757delCATCTG c.298_303delCATCTG p.H100_L101delHL RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436752_66436757delCATCTG c.298_303delCATCTG p.H100_L101delHL 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 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...
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...