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Gene | MDM2 |
Variant | C305F |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | MDM2 C305F lies within the RanBP2-type zinc finger domain of the Mdm2 protein (UniProt.org). C305F retains Tp53 binding and transcriptional inhibition but confers a loss of function to Mdm2 as demonstrated by impaired nuclear export, failure to bind the ribosomal proteins L5 or L11, and failure to mediate Tp53 degradation in culture (PMID: 17116689). |
Associated Drug Resistance | |
Category Variants Paths |
MDM2 mutant MDM2 inact mut MDM2 C305F |
Transcript | NM_001367990.1 |
gDNA | chr12:g.68839287G>T |
cDNA | c.914G>T |
Protein | p.C305F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005268872 | chr12:g.68839287G>T | c.914G>T | p.C305F | RefSeq | GRCh38/hg38 |
NM_001367990.1 | chr12:g.68839287G>T | c.914G>T | p.C305F | RefSeq | GRCh38/hg38 |
XM_005268872.5 | chr12:g.68839287G>T | c.914G>T | p.C305F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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