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Gene | MAP2K1 |
Variant | P321H |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | MAP2K1 P321H lies within the protein kinase domain of the Map2k1 protein (UniProt.org). P321H induces Erk phosphorylation similar to wild-type Map2k1 in cultured cells (PMID: 32641410), and therefore, is predicted to have no effect on Map2k1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 P321H |
Transcript | NM_002755.4 |
gDNA | chr15:g.66489216C>A |
cDNA | c.962C>A |
Protein | p.P321H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.3 | chr15:g.66489216C>A | c.962C>A | p.P321H | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66489216C>A | c.962C>A | p.P321H | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66489216C>A | c.962C>A | p.P321H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 P321H | no effect - predicted |