MAP2K1 I103_K104del
Gene Variant Detail

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Gene MAP2K1
Variant I103_K104del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 I103_K104del results in the deletion of two amino acids in the Map2k1 protein from amino acids 103 to 104 (UniProt.org). I103_K104del confers a gain of function to the Map2k1 protein as demonstrated by activity independent of Raf and increased phosphorylation of Mek and Erk relative to wild-type Map2k1 (PMID: 29483135), increased Mek and Erk phosphorylation in culture (PMID: 28935960, PMID: 30377225), increased proliferation in a competition assay, and increased transformation activity in culture (PMID: 36442478).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 I103_K104del

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Transcript NM_002755.4
gDNA chr15:g.66436761_66436766delATCAAA
cDNA c.307_312delATCAAA
Protein p.I103_K104delIK
Source Database RefSeq
Genome Build 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.