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Gene | MAP2K1 |
Variant | P306H |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 P306H lies within the protein kinase domain of the Map2k1 protein (UniProt.org). P306H confers a gain of function to the Map2k1 protein as indicated by increased phosphorylation of Erk1/2 and modest transformation activity in culture (PMID: 22327936). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 P306H |
Transcript | NM_002755.4 |
gDNA | chr15:g.66487249C>A |
cDNA | c.917C>A |
Protein | p.P306H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.4 | chr15:g.66487249C>A | c.917C>A | p.P306H | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66487249C>A | c.917C>A | p.P306H | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66487249C>A | c.917C>A | p.P306H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 P306H | gain of function | MEK inhibitor (Pan) MEK1 Inhibitor |
BRAF V600E MAP2K1 P306H |