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Gene | MAP2K1 |
Variant | Q110_I111del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | MAP2K1 Q110_I111del results in the deletion of two amino acids in the protein kinase domain of the Map2k1 protein from amino acids 110 to 111 (UniProt.org). Q110_I111del results in increased Erk phosphorylation in cultured cells (PMID: 32641410), and therefore, is predicted to lead to a gain of Map2k1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 Q110_I111del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436782_66436787delCAGATC |
cDNA | c.328_333delCAGATC |
Protein | p.Q110_I111delQI |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |