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Gene | MDM2 |
Variant | G58D |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | MDM2 G58D lies within the TP53-binding domain of the Mdm2 protein (PMID: 14707282). G58D results in loss of Tp53 binding in an in vitro assay (PMID: 9131587), and therefore, is predicted to lead to a loss of Mdm2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MDM2 mutant MDM2 inact mut MDM2 G58D |
Transcript | NM_001367990.1 |
gDNA | chr12:g.68816828G>A |
cDNA | c.173G>A |
Protein | p.G58D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005268872 | chr12:g.68816828G>A | c.173G>A | p.G58D | RefSeq | GRCh38/hg38 |
NM_001145337.3 | chr12:g.68816828G>A | c.173G>A | p.G58D | RefSeq | GRCh38/hg38 |
NM_001367990.1 | chr12:g.68816828G>A | c.173G>A | p.G58D | RefSeq | GRCh38/hg38 |
XM_005268872.5 | chr12:g.68816828G>A | c.173G>A | p.G58D | RefSeq | GRCh38/hg38 |
NM_001145337.2 | chr12:g.68816828G>A | c.173G>A | p.G58D | RefSeq | GRCh38/hg38 |
NM_001145337 | chr12:g.68816828G>A | c.173G>A | p.G58D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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