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Gene | MAP2K1 |
Variant | R47Q |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 R47Q lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). R47Q results in increased phosphorylation of Erk and is transforming in cell culture (PMID: 22327936). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 R47Q |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435086G>A |
cDNA | c.140G>A |
Protein | p.R47Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411.3 | chr15:g.66435086G>A | c.140G>A | p.R47Q | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66435086G>A | c.140G>A | p.R47Q | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66435086G>A | c.140G>A | p.R47Q | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66435086G>A | c.140G>A | p.R47Q | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66435086G>A | c.140G>A | p.R47Q | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66435086G>A | c.140G>A | p.R47Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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