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Gene | MAP2K1 |
Variant | P124S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MAP2K1 P124S lies within the protein kinase domain of the Map2k1 protein (UniProt.org). P124S results in increased Erk1/2 phosphorylation and confers resistance to Mek and Braf inhibitors (PMID: 19915144, PMID: 22197931) and an Egfr antibody (PMID: 33322618) in culture, but has similar induction of cell proliferation and viability levels to wild-type Map2k1 in culture (PMID: 29533785), and therefore, its effect on Map2k1 protein function is unknown. |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 P124S |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436824C>T |
cDNA | c.370C>T |
Protein | p.P124S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.3 | chr15:g.66436824C>T | c.370C>T | p.P124S | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436824C>T | c.370C>T | p.P124S | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436824C>T | c.370C>T | p.P124S | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436824C>T | c.370C>T | p.P124S | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436824C>T | c.370C>T | p.P124S | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66436824C>T | c.370C>T | p.P124S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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