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 | S222D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MAP2K1 S222D lies within the protein kinase domain of the Map2k1 protein (UniProt.org). S222D results in constitutive activation of Map2k1 when combined with S218D or S226D in culture (PMID: 7936666, PMID: 12506122), but has not been individually characterized and therefore, its effect on Map2k1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 S222D |
Transcript | NM_002755.4 |
gDNA | chr15:g.66481850_66481851delTCinsGA |
cDNA | c.664_665delTCinsGA |
Protein | p.S222D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |