MAP2K1 D67N
Gene Variant Detail

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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_002755.4 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
NM_002755 chr15:g.66435145G>A c.199G>A p.D67N RefSeq GRCh38/hg38
NM_002755.3 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

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  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 D67N Advanced Solid Tumor sensitive Selumetinib Preclinical - Cell culture Actionable In a preclinical study, Koselugo (selumetinib) inhibited colony formation of transformed cells expressing MAP2K1 D67N in culture (PMID: 25351745). 25351745