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Gene | MAP2K1 |
Variant | P105_A106del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 P105_A106del results in the deletion of two amino acids in the protein kinase domain of the Map2k1 protein from amino acids 105 to 106 (UniProt.org). P105_A106del results in increased phosphorylation of Mek and Erk relative to wild-type Map2k1 in cell culture (PMID: 30377225). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 P105_A106del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436767_66436772delCCCGCA |
cDNA | c.313_318delCCCGCA |
Protein | p.P105_A106delPA |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |