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Gene | MAP2K1 |
Variant | F53_Q58del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 F53_Q58del results in the deletion of six amino acids in the Map2k1 protein from amino acids 53 to 58 (UniProt.org). F53_Q58del results in activation of Map2k1 as indicated by increased Erk and Mek phosphorylation in cell culture (PMID: 26566875, PMID: 29483135). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 F53_Q58del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435103_66435120del18 |
cDNA | c.157_174del18 |
Protein | p.F53_Q58delFLTQKQ |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |