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Gene MAP2K1
Variant H100_I103delinsPL
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions MAP2K1 H100_I103delinsPL results in a deletion of four amino acids of the Map2k1 protein from amino acids 100 to 103, combined with the insertion of a proline (P) and a leucine (L) at the same site (UniProt.org). H100_I103delinsPL results in proliferation under low serum conditions similar to wild-type Map2k1 in a competition assay but is predicted to lead to a gain of Map2k1 protein function as demonstrated by increased proliferation in a competition assay and increased transformation activity in cultured cells and resistance to Braf inhibitors in the context of BRAF V600E in culture (PMID: 36442478).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 H100_I103delinsPL

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Transcript NM_002755.4
gDNA chr15:g.66436752_66436763delinsCCTCTT
cDNA c.298_309delinsCCTCTT
Protein p.H100_I103delinsPL
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.3 chr15:g.66436752_66436763delinsCCTCTT c.298_309delinsCCTCTT p.H100_I103delinsPL RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436752_66436763delinsCCTCTT c.298_309delinsCCTCTT p.H100_I103delinsPL RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436752_66436763delinsCCTCTT c.298_309delinsCCTCTT p.H100_I103delinsPL RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436752_66436763delinsCCTCTT c.298_309delinsCCTCTT p.H100_I103delinsPL RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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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...