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 | E41_L54del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 E41_L54del results in the deletion of 14 amino acids in the Map2k1 protein from amino acids 41 to 54 (UniProt.org). E41_L54del results in increased Map2k1 nuclear localization, elevated Erk phosphorylation, and cell transformation in culture, and promotes tumorigenesis and confers resistance to ROS1 tyrosine kinase inhibitors in the context of a ROS1 fusion (PMID: 32122926). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 E41_L54del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435067_66435108del42 |
cDNA | c.121_162del42 |
Protein | p.E41_L54del14 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |