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 | S123T |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 S123T lies within the protein kinase domain of the Map2k1 protein (UniProt.org). S123T confers a gain of function to the Map2k1 protein as demonstrated by increased Mek and Erk phosphorylation relative to wild-type Map2k1 (PMID: 26566875). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 S123T |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436821T>A |
cDNA | c.367T>A |
Protein | p.S123T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.4 | chr15:g.66436821T>A | c.367T>A | p.S123T | RefSeq | GRCh38/hg38 |
XM_017022413 | chr15:g.66485191T>A | c.367T>A | p.S123T | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436821T>A | c.367T>A | p.S123T | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66436821T>A | c.367T>A | p.S123T | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436821T>A | c.367T>A | p.S123T | RefSeq | GRCh38/hg38 |
XM_017022413.1 | chr15:g.66485191T>A | c.367T>A | p.S123T | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436821T>A | c.367T>A | p.S123T | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436821T>A | c.367T>A | p.S123T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 S123T | gain of function | MEK inhibitor (Pan) MEK1 Inhibitor |