Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | MAP2K1 |
Variant | Q56_V60del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 Q56_V60del results in the deletion of five amino acids in the protein kinase domain of the Map2k1 protein from amino acids 56 to 60 (UniProt.org). Q56_V60del confers a gain of function to the Map2k1 protein as indicated by transformation capabilities and increased phosphorylation of Erk and S6k in culture (PMID: 26324360). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 Q56_V60del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435112_66435126del15 |
cDNA | c.166_180del15 |
Protein | p.Q56_V60delQKQKV |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |