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Gene | MAP2K1 |
Variant | V211D |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 V211D lies within the protein kinase domain of the Map2k1 protein (UniProt.org). V211D confers a gain of function to Map2k1, as demonstrated by increased phosphorylation of Mek and Erk in cultured cells and in vitro kinase assays, and also demonstrates Braf and Mek inhibitor resistance (PMID: 29753091, PMID: 19915144, PMID: 31227518). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 V211D |
Transcript | NM_002755.4 |
gDNA | chr15:g.66481818T>A |
cDNA | c.632T>A |
Protein | p.V211D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755 | chr15:g.66481818T>A | c.632T>A | p.V211D | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66481818T>A | c.632T>A | p.V211D | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66481818T>A | c.632T>A | p.V211D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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