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Gene | MDM2 |
Variant | V234L |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | MDM2 V234L (corresponding to V228L in the canonical isoform) lies within the ARF-binding region of the Mdm2 protein (UniProt.org). V234L demonstrates ability to degrade Tp53 similar to wild-type Mdm2 in culture (PMID: 27308622), and therefore, is predicted to have no effect on Mdm2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
MDM2 mutant MDM2 V234L |
Transcript | NM_002392.6 |
gDNA | chr12:g.68835844G>C |
cDNA | c.700G>C |
Protein | p.V234L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002392.6 | chr12:g.68835844G>C | c.700G>C | p.V234L | RefSeq | GRCh38/hg38 |
NM_002392 | chr12:g.68835844G>C | c.700G>C | p.V234L | RefSeq | GRCh38/hg38 |
NM_002392.5 | chr12:g.68835844G>C | c.700G>C | p.V234L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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