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Gene | MAP2K1 |
Variant | Y130C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MAP2K1 Y130C lies within the protein kinase domain of the Map2k1 protein (UniProt.org). Y130C demonstrates a phosphorylation profile similar to wild-type Map2k1 (PMID: 29753091), but in another study results in increased Erk phosphorylation in cell culture (PMID: 16439621, PMID: 18060073, PMID: 17981815, PMID: 31972311), and elevated cell cycle progression and colony formation compared to wild-type Map2k1 (PMID: 31972311), and therefore, its effect on Map2k1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 Y130C |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436843A>G |
cDNA | c.389A>G |
Protein | p.Y130C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |