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Gene | MAP2K1 |
Variant | P264S |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | MAP2K1 P264S lies within the protein kinase domain of the Map2k1 protein (UniProt.org). P264S results in Erk phosphorylation (PMID: 32641410) and transformation activity similar to wild-type Map2k1 in culture (PMID: 36442478) and proliferation similar to wild-type in a competition assay (PMID: 36442478), and therefore, is predicted to have no effect on Map2k1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 P264S |
Transcript | NM_002755.4 |
gDNA | chr15:g.66485086C>T |
cDNA | c.790C>T |
Protein | p.P264S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411.2 | chr15:g.66485164C>T | c.790C>T | p.P264S | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66485086C>T | c.790C>T | p.P264S | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66485086C>T | c.790C>T | p.P264S | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66485164C>T | c.790C>T | p.P264S | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66485086C>T | c.790C>T | p.P264S | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66485164C>T | c.790C>T | p.P264S | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 P264S | no effect - predicted | |
BRAF V600E MAP2K1 P264S |