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Gene MAP2K1
Variant L54P
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions MAP2K1 L54P does not lie within any known functional domains of the Map2k1 protein (UniProt.org). L54P results in proliferation similar to wild-type Map2k1 in a competition assay but increased transformation activity in cultured cells (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 L54P

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Transcript NM_002755.4
gDNA chr15:g.66435107T>C
cDNA c.161T>C
Protein p.L54P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411.3 chr15:g.66435107T>C c.161T>C p.L54P RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435107T>C c.161T>C p.L54P RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435107T>C c.161T>C p.L54P RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435107T>C c.161T>C p.L54P 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.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References