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Gene | MAP2K1 |
Variant | F53Y |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 F53Y lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). F53Y results in proliferation in low serum conditions similar to wild-type Map2k1 in a competition assay (PMID: 36442478) but confers a gain of function to Map2k1 as demonstrated by increased Erk phosphorylation (PMID: 30776432) and transformation activity in cultured cells and increased proliferation in normal serum conditions in a competition assay (PMID: 36442478). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 F53Y |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435104T>A |
cDNA | c.158T>A |
Protein | p.F53Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411.2 | chr15:g.66435104T>A | c.158T>A | p.F53Y | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66435104T>A | c.158T>A | p.F53Y | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66435104T>A | c.158T>A | p.F53Y | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66435104T>A | c.158T>A | p.F53Y | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66435104T>A | c.158T>A | p.F53Y | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66435104T>A | c.158T>A | p.F53Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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