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Gene | MDM2 |
Variant | L82P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MDM2 L82P lies within the TP53-binding domain of the Mdm2 protein (PMID: 14707282). L82P has been associated with MDM2 inhibitor resistance in cell culture (PMID: 23653682), but has not been biochemically characterized and therefore, its effect on Mdm2 protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | Y |
Category Variants Paths |
MDM2 mutant MDM2 L82P |
Transcript | NM_001367990.1 |
gDNA | chr12:g.68816900T>C |
cDNA | c.245T>C |
Protein | p.L82P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001145337.2 | chr12:g.68816900T>C | c.245T>C | p.L82P | RefSeq | GRCh38/hg38 |
NM_001145337.3 | chr12:g.68816900T>C | c.245T>C | p.L82P | RefSeq | GRCh38/hg38 |
NM_001145337 | chr12:g.68816900T>C | c.245T>C | p.L82P | RefSeq | GRCh38/hg38 |
NM_001367990.1 | chr12:g.68816900T>C | c.245T>C | p.L82P | RefSeq | GRCh38/hg38 |
XM_005268872 | chr12:g.68816900T>C | c.245T>C | p.L82P | RefSeq | GRCh38/hg38 |
XM_005268872.5 | chr12:g.68816900T>C | c.245T>C | p.L82P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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