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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 |