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Gene | MAP2K1 |
Variant | I204T |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 I204T lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I204T confers a gain of function to the Map2k1 protein as indicated by transformation activity and increased phosphorylation of Erk1/2 in culture (PMID: 22327936). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 I204T |
Transcript | NM_002755.4 |
gDNA | chr15:g.66481797T>C |
cDNA | c.611T>C |
Protein | p.I204T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.3 | chr15:g.66481797T>C | c.611T>C | p.I204T | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66481797T>C | c.611T>C | p.I204T | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66481797T>C | c.611T>C | p.I204T | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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