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Gene | MDM2 |
Variant | S17D |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MDM2 S17D lies within the lid region of the Mdm2 protein (PMID: 12552135). S17D stabilizes MDM2-TP53 binding and enhances Tp53 protein ubiquitination in an in vitro assay (PMID: 19568783, PMID: 20303977). |
Associated Drug Resistance | |
Category Variants Paths |
MDM2 mutant MDM2 act mut MDM2 S17D |
Transcript | NM_001367990.1 |
gDNA | chr12:g.68809260_68809262delTCAinsGAC |
cDNA | c.49_51delTCAinsGAC |
Protein | p.S17D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001145337.2 | chr12:g.68809260_68809262delTCAinsGAC | c.49_51delTCAinsGAC | p.S17D | RefSeq | GRCh38/hg38 |
XM_005268872.5 | chr12:g.68809260_68809262delTCAinsGAC | c.49_51delTCAinsGAC | p.S17D | RefSeq | GRCh38/hg38 |
NM_001145340.2 | chr12:g.68809260_68809262delTCAinsGAC | c.49_51delTCAinsGAC | p.S17D | RefSeq | GRCh38/hg38 |
NM_001278462 | chr12:g.68809260_68809262delTCAinsGAC | c.49_51delTCAinsGAC | p.S17D | RefSeq | GRCh38/hg38 |
NM_001145340 | chr12:g.68809260_68809262delTCAinsGAC | c.49_51delTCAinsGAC | p.S17D | RefSeq | GRCh38/hg38 |
NM_001278462.1 | chr12:g.68809260_68809262delTCAinsGAC | c.49_51delTCAinsGAC | p.S17D | RefSeq | GRCh38/hg38 |
NM_001278462.2 | chr12:g.68809260_68809262delTCAinsGAC | c.49_51delTCAinsGAC | p.S17D | RefSeq | GRCh38/hg38 |
NM_001145340.3 | chr12:g.68809260_68809262delTCAinsGAC | c.49_51delTCAinsGAC | p.S17D | RefSeq | GRCh38/hg38 |
NM_001145337 | chr12:g.68809260_68809262delTCAinsGAC | c.49_51delTCAinsGAC | p.S17D | RefSeq | GRCh38/hg38 |
XM_005268872 | chr12:g.68809260_68809262delTCAinsGAC | c.49_51delTCAinsGAC | p.S17D | RefSeq | GRCh38/hg38 |
NM_001145337.3 | chr12:g.68809260_68809262delTCAinsGAC | c.49_51delTCAinsGAC | p.S17D | RefSeq | GRCh38/hg38 |
NM_001367990.1 | chr12:g.68809260_68809262delTCAinsGAC | c.49_51delTCAinsGAC | p.S17D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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