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Gene | MAP2K1 |
Variant | D303N |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MAP2K1 D303N lies within the protein kinase domain of the Map2k1 protein (UniProt.org). D303N results in transformation activity similar to wild-type Map2k1 in cultured cells and proliferation similar to wild-type in normal serum conditions in a competition assay but decreased proliferation in a competition assay in low serum conditions (PMID: 36442478), and therefore, is predicted to lead to a loss of Map2k1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 inact mut MAP2K1 D303N |
Transcript | NM_002755.4 |
gDNA | chr15:g.66487239G>A |
cDNA | c.907G>A |
Protein | p.D303N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.4 | chr15:g.66487239G>A | c.907G>A | p.D303N | RefSeq | GRCh38/hg38 |
NM_001411065.1 | chr15:g.66489746G>A | c.907G>A | p.D303N | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66487239G>A | c.907G>A | p.D303N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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