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 | I111_I112del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | MAP2K1 I111_I112del results in the deletion of two amino acids in the protein kinase domain of the Map2k1 protein from amino acids 111 to 112 (UniProt.org). I111_I112del 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 I111_I112del |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436786_66436791delTCATAA |
cDNA | c.332_337delTCATAA |
Protein | p.I111_I112delII |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |