Gene Variant Detail

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Gene MAP2K1
Variant D351G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MAP2K1 D351G lies within the protein kinase domain of the Map2k1 protein (UniProt.org). D351G has been identified in the scientific literature (PMID: 26582713, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Feb 2022).
Associated Drug Resistance

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Transcript NM_002755.3
gDNA chr15:g.66489747A>G
cDNA c.1052A>G
Protein p.D351G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.3 chr15:g.66489747A>G c.1052A>G p.D351G RefSeq GRCh38/hg38
NM_002755 chr15:g.66489747A>G c.1052A>G p.D351G RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 Q56P MAP2K1 H119Y MAP2K1 D351G colorectal cancer predicted - sensitive LY3214996 Preclinical - Cell line xenograft Actionable In a preclinical study, LY3214996 treatment in a colorectal cancer cell line harboring MAP2K1 Q56P, MAP2K1 H119Y, and MAP2K1 D351G led to decreased cell proliferation in culture, and inhibition of tumor growth in a cell line xenograft model (PMID: 31744895). 31744895
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...
Molecular Profile Protein Effect Treatment Approaches
MAP2K1 D351G unknown
MAP2K1 Q56P MAP2K1 H119Y MAP2K1 D351G