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Gene MAP2K1
Variant E102_I103del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 E102_I103del results in the deletion of two amino acids in the protein kinase domain of the Map2k1 protein from amino acids 102 to 103 (UniProt.org). E102_I103del 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 Erk phosphorylation (PMID: 32036070, PMID: 25202140) and Mek homodimerization in culture (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 E102_I103del

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Transcript NM_002755.4
gDNA chr15:g.66436758_66436763delGAGATC
cDNA c.304_309delGAGATC
Protein p.E102_I103delEI
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022411.3 chr15:g.66436758_66436763delGAGATC c.304_309delGAGATC p.E102_I103delEI RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66436824_66436829delCCGTAC c.304_309delCCGTAC p.P102_Y103delPY RefSeq GRCh38/hg38
NM_002755 chr15:g.66436758_66436763delGAGATC c.304_309delGAGATC p.E102_I103delEI RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66436824_66436829delCCGTAC c.304_309delCCGTAC p.P102_Y103delPY RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436758_66436763delGAGATC c.304_309delGAGATC p.E102_I103delEI RefSeq GRCh38/hg38
XM_017022412 chr15:g.66436824_66436829delCCGTAC c.304_309delCCGTAC p.P102_Y103delPY RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66436824_66436829delCCGTAC c.304_309delCCGTAC p.P102_Y103delPY RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436758_66436763delGAGATC c.304_309delGAGATC p.E102_I103delEI RefSeq GRCh38/hg38
XM_017022413 chr15:g.66485128_66485133delCAGGTG c.304_309delCAGGTG p.Q102_V103delQV RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66485128_66485133delCAGGTG c.304_309delCAGGTG p.Q102_V103delQV RefSeq GRCh38/hg38
XM_011521783 chr15:g.66436824_66436829delCCGTAC c.304_309delCCGTAC p.P102_Y103delPY RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436758_66436763delGAGATC c.304_309delGAGATC p.E102_I103delEI RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436758_66436763delGAGATC c.304_309delGAGATC p.E102_I103delEI RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66436824_66436829delCCGTAC c.304_309delCCGTAC p.P102_Y103delPY 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

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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
MAP2K1 E102_I103del gain of function
BRAF V600E MAP2K1 E102_I103del