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Gene | MDM2 |
Variant | C308Y |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MDM2 C308Y lies within the RanBP2-type zinc finger domain of the Mdm2 protein (UniProt.org). C308Y results in decreased Tp53 degradation (PMID: 17116689) and has been shown to confer MDM2 inhibitor resistance in cell culture (PMID: 23653682), and therefore, is predicted to lead to a loss of Mdm2 protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
MDM2 mutant MDM2 inact mut MDM2 C308Y |
Transcript | NM_001367990.1 |
gDNA | chr12:g.68839296G>A |
cDNA | c.923G>A |
Protein | p.C308Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001367990.1 | chr12:g.68839296G>A | c.923G>A | p.C308Y | RefSeq | GRCh38/hg38 |
XM_005268872 | chr12:g.68839296G>A | c.923G>A | p.C308Y | RefSeq | GRCh38/hg38 |
XM_005268872.5 | chr12:g.68839296G>A | c.923G>A | p.C308Y | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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