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Gene MAP2K1
Variant E51_Q58del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 E51_Q58del results in the deletion of eight amino acids in the Map2k1 protein from amino acids 51 to 58 (UniProt.org). E51_Q58del results in activation of Map2k1 as indicated by increased Erk and Mek phosphorylation in cell culture (PMID: 29483135).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 E51_Q58del

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Transcript NM_002755.4
gDNA chr15:g.66435097_66435120del24
cDNA c.151_174del24
Protein p.E51_Q58delEAFLTQKQ
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011521783.4 chr15:g.66435164_66435187del24 c.152_175del24 p.E51_G58delELGAGNGG RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435097_66435120del24 c.151_174del24 p.E51_Q58delEAFLTQKQ RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66435164_66435187del24 c.152_175del24 p.E51_G58delELGAGNGG RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435097_66435120del24 c.151_174del24 p.E51_Q58delEAFLTQKQ RefSeq GRCh38/hg38
XM_017022412 chr15:g.66435164_66435187del24 c.152_175del24 p.E51_G58delELGAGNGG RefSeq GRCh38/hg38
NM_002755 chr15:g.66435097_66435120del24 c.151_174del24 p.E51_Q58delEAFLTQKQ RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66435164_66435187del24 c.152_175del24 p.E51_G58delELGAGNGG RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435097_66435120del24 c.151_174del24 p.E51_Q58delEAFLTQKQ RefSeq GRCh38/hg38
XM_011521783 chr15:g.66435164_66435187del24 c.152_175del24 p.E51_G58delELGAGNGG RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66435164_66435187del24 c.152_175del24 p.E51_G58delELGAGNGG RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435097_66435120del24 c.151_174del24 p.E51_Q58delEAFLTQKQ RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435097_66435120del24 c.151_174del24 p.E51_Q58delEAFLTQKQ RefSeq GRCh38/hg38
XM_017022413 chr15:g.66481865_66484998del3134 c.151_174del3134 p.R51_R58delRSYMSPER RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66481865_66484998del3134 c.151_174del3134 p.R51_R58delRSYMSPER RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
MAP2K1 E51_Q58del gain of function