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Gene | MAP2K1 |
Variant | Q58_E62del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 Q58_E62del results in the deletion of five amino acids in the Map2k1 protein from amino acis 58 to 62 (UniProt.org). Q58_E62del confers a gain of function to the Map2k1 protein as demonstrated by increased Mek and Erk phosphorylation relative to wild-type Map2k1 (PMID: 26566875, PMID: 25202140, PMID: 28935960). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 Q58_E62del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435119_66435133del15 |
cDNA | c.173_187del15 |
Protein | p.Q58_E62delQKVGE |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.3 | chr15:g.66435119_66435133del15 | c.173_187del15 | p.Q58_E62delQKVGE | RefSeq | GRCh38/hg38 |
XM_017022413.1 | chr15:g.66484996_66485010del15 | c.172_186del15 | p.R58_T62delRLQGT | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66435119_66435133del15 | c.173_187del15 | p.Q58_E62delQKVGE | RefSeq | GRCh38/hg38 |
XM_011521783.3 | chr15:g.66435185_66435199del15 | c.173_187del15 | p.G58_K62delGVVFK | RefSeq | GRCh38/hg38 |
NM_001411065.1 | chr15:g.66435185_66435199del15 | c.173_187del15 | p.G58_K62delGVVFK | RefSeq | GRCh38/hg38 |
XM_017022412.1 | chr15:g.66435185_66435199del15 | c.173_187del15 | p.G58_K62delGVVFK | RefSeq | GRCh38/hg38 |
XM_011521783 | chr15:g.66435185_66435199del15 | c.173_187del15 | p.G58_K62delGVVFK | RefSeq | GRCh38/hg38 |
XM_017022413 | chr15:g.66484996_66485010del15 | c.172_186del15 | p.R58_T62delRLQGT | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66435119_66435133del15 | c.173_187del15 | p.Q58_E62delQKVGE | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66435119_66435133del15 | c.173_187del15 | p.Q58_E62delQKVGE | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66435119_66435133del15 | c.173_187del15 | p.Q58_E62delQKVGE | RefSeq | GRCh38/hg38 |
XM_017022412 | chr15:g.66435185_66435199del15 | c.173_187del15 | p.G58_K62delGVVFK | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66435119_66435133del15 | c.173_187del15 | p.Q58_E62delQKVGE | RefSeq | GRCh38/hg38 |
XM_011521783.4 | chr15:g.66435185_66435199del15 | c.173_187del15 | p.G58_K62delGVVFK | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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