Gene Variant Detail

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Gene MAP2K1
Variant E120Q
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions MAP2K1 E120Q lies within the protein kinase domain of the Map2k1 protein (UniProt.org). E120Q is predicted to confer a gain of function to the Map2k1 protein as demonstrated by increased Mek phosphorylation in culture (PMID: 26566875).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 E120Q

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Transcript NM_002755.4
gDNA chr15:g.66436812G>C
cDNA c.358G>C
Protein p.E120Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.4 chr15:g.66436812G>C c.358G>C p.E120Q RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436812G>C c.358G>C p.E120Q RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436812G>C c.358G>C p.E120Q RefSeq GRCh38/hg38
NM_002755 chr15:g.66436812G>C c.358G>C p.E120Q RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436812G>C c.358G>C p.E120Q RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436812G>C c.358G>C p.E120Q 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 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...