MAP2K1 Q354H - Gene Variant Detail

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Gene MAP2K1
Variant Q354H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MAP2K1 Q354H lies within the protein kinase domain of the Map2k1 protein (UniProt.org). Q354H has been identified in sequencing studies (PMID: 30111351), but has not been biochemically characterized and therefore, its effect on Map2k1 protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 Q354H

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Transcript NM_002755.4
gDNA chr15:g.66489757A>T
cDNA c.1062A>T
Protein p.Q354H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755 chr15:g.66489757A>T c.1062A>T p.Q354H RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66489757A>T c.1062A>T p.Q354H RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66489757A>T c.1062A>T p.Q354H RefSeq GRCh38/hg38

Filtering

  • 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")

Sorting

  • 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 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...