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Gene | MAP2K1 |
Variant | P124Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MAP2K1 P124Q lies within the protein kinase domain of the Map2k1 protein (UniProt.org). P124Q results in increased Erk1/2 phosphorylation in culture, and is associated with decreased sensitivity to Raf inhibition (PMID: 25370473), but demonstrates autophosphorylation and kinase activity similar to wild-type Map2k1 in another study (PMID: 29753091), and therefore, its effect on Map2k1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 P124Q |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436825C>A |
cDNA | c.371C>A |
Protein | p.P124Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.3 | chr15:g.66436825C>A | c.371C>A | p.P124Q | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436825C>A | c.371C>A | p.P124Q | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66436825C>A | c.371C>A | p.P124Q | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436825C>A | c.371C>A | p.P124Q | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436825C>A | c.371C>A | p.P124Q | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436825C>A | c.371C>A | p.P124Q | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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