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Gene | MAP2K1 |
Variant | P387S |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 P387S does not lie within any known functional domains of the Map2k1 protein (UniProt.org). P387S confers a gain of function to the Map2k1 protein as demonstrated by constitutive phosphorylation of Mek and Erk (PMID: 22389471). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 P387S |
Transcript | NM_002755.4 |
gDNA | chr15:g.66490592C>T |
cDNA | c.1159C>T |
Protein | p.P387S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755 | chr15:g.66490592C>T | c.1159C>T | p.P387S | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66490592C>T | c.1159C>T | p.P387S | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66490592C>T | c.1159C>T | p.P387S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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