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Gene | MAP2K1 |
Variant | V258I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MAP2K1 V258I lies within the protein kinase domain of the Map2k1 protein (UniProt.org). V258I induces Erk phosphorylation (PMID: 32641410), transformation activity, and proliferation in high serum conditions similar to wild-type Map2k1 in cultured cells (PMID: 36442478), but decreased proliferation in low serum conditions in culture (PMID: 36442478), and therefore, its effect on Map2k1 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 V258I |
Transcript | NM_002755.4 |
gDNA | chr15:g.66485068G>A |
cDNA | c.772G>A |
Protein | p.V258I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |