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 | P387S |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 P387S does not lie within any known functional domains of the Map2k1 protein (UniProt.org). P387S confers a gain of function to the Map2k1 protein as demonstrated by constitutive phosphorylation of Mek and Erk (PMID: 22389471). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 P387S |
Transcript | NM_002755.4 |
gDNA | chr15:g.66490592C>T |
cDNA | c.1159C>T |
Protein | p.P387S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755 | chr15:g.66490592C>T | c.1159C>T | p.P387S | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66490592C>T | c.1159C>T | p.P387S | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66490592C>T | c.1159C>T | p.P387S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|