Gene Variant Detail

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Gene MAP2K1
Variant K59del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions MAP2K1 K59del results in the deletion of an amino acid in the protein kinase domain of the Map2k1 protein at amino acid 59 (UniProt.org). K59del results in increased Mek and Erk phosphorylation in culture (PMID: 22389471), but demonstrates autophosphorylation levels similar to wild-type Map2k1 in another study (PMID: 29753091), and therefore, its effect on Map2k1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 K59del

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Transcript NM_002755.3
gDNA chr15:g.66435121_66435123delAAG
cDNA c.175_177delAAG
Protein p.K59delK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011521783.3 chr15:g.66435190_66435192delGTG c.178_180delGTG p.V60delV RefSeq GRCh38/hg38
XM_011521783 chr15:g.66435190_66435192delGTG c.178_180delGTG p.V60delV RefSeq GRCh38/hg38
XM_017022412 chr15:g.66435190_66435192delGTG c.178_180delGTG p.V60delV RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435121_66435123delAAG c.175_177delAAG p.K59delK RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66485000_66485002delTCC c.176_178delTCC p.L59delL RefSeq GRCh38/hg38
XM_017022413 chr15:g.66485000_66485002delTCC c.176_178delTCC p.L59delL RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66435190_66435192delGTG c.178_180delGTG p.V60delV RefSeq GRCh38/hg38
NM_002755 chr15:g.66435121_66435123delAAG c.175_177delAAG p.K59delK RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435121_66435123delAAG c.175_177delAAG p.K59delK RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435121_66435123delAAG c.175_177delAAG p.K59delK 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 )
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  • 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 K59del Advanced Solid Tumor sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited viability of a transformed cell line expressing MAP2K1 K59del in culture (PMID: 36442478). 36442478