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Gene | MAP2K1 |
Variant | S241Y |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | MAP2K1 S241Y lies within the protein kinase domain of the Map2k1 protein (UniProt.org). S241Y results in transformation activity and proliferation in a competition assay in normal serum conditions similar to wild-type Map2k1 but increased proliferation in a competition assay in low serum conditions (PMID: 36442478), 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 S241Y |
Transcript | NM_002755.4 |
gDNA | chr15:g.66485018C>A |
cDNA | c.722C>A |
Protein | p.S241Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.4 | chr15:g.66485018C>A | c.722C>A | p.S241Y | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66485018C>A | c.722C>A | p.S241Y | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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