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Gene MAP2K1
Variant F53_Q58delinsL
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions MAP2K1 F53_Q58delinsL results in a deletion of six amino acids of the Map2k1 protein from amino acids 53 to 58, combined with the insertion of a leucine (L) at the same site (UniProt.org). F53_Q58delinsL results in proliferation in low serum conditions similar to wild-type Map2k1 in a competition assay but results in increased transformation activity in cultured cells and increased proliferation in normal serum conditions in a competition assay (PMID: 36442478), and therefore, is predicted to lead to a gain of Map2k1 protein function.
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 F53_Q58delinsL

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Transcript NM_002755.4
gDNA chr15:g.66435105_66435119del15
cDNA c.159_173del15
Protein p.F53_Q58delinsL
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002755.3 chr15:g.66435105_66435119del15 c.159_173del15 p.F53_Q58delinsL RefSeq GRCh38/hg38
NM_002755 chr15:g.66435105_66435119del15 c.159_173del15 p.F53_Q58delinsL RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435105_66435119del15 c.159_173del15 p.F53_Q58delinsL RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435105_66435119del15 c.159_173del15 p.F53_Q58delinsL RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435105_66435119del15 c.159_173del15 p.F53_Q58delinsL RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435105_66435119del15 c.159_173del15 p.F53_Q58delinsL 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 F53_Q58delinsL Advanced Solid Tumor sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited viability of a transformed cell line expressing MAP2K1 F53_Q58delinsL in culture (PMID: 36442478). 36442478