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Gene MAP2K1
Variant D67N
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 D67N does not lie within any known functional domains of the Map2k1 protein (UniProt.org). D67N confers a gain of function to Map2k1 as demonstrated by increased Erk activation (PMID: 25049390, PMID: 29483135), increased Rsk phosphorylation (PMID: 25351745), and transformation in culture (PMID: 25351745, PMID: 36442478), and is associated with BRAF inhibitor resistance in the context of BRAF V600E in culture (PMID: 28986383).
Associated Drug Resistance Y
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 D67N

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Transcript NM_002755.4
gDNA chr15:g.66435145G>A
cDNA c.199G>A
Protein p.D67N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.3 chr15:g.66435145G>A c.199G>A p.D67N RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435145G>A c.199G>A p.D67N RefSeq GRCh38/hg38
NM_002755 chr15:g.66435145G>A c.199G>A p.D67N RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435145G>A c.199G>A p.D67N RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435145G>A c.199G>A p.D67N RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435145G>A c.199G>A p.D67N 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 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...