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Gene | MDM2 |
Variant | V247A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MDM2 V247A lies within the acidic domain of the Mdm2 protein (PMID: 14707282). V247A has not been characterized in the scientific literature and therefore, its effect on Mdm2 protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
MDM2 mutant MDM2 V247A |
Transcript | NM_001367990.1 |
gDNA | chr12:g.68835902T>C |
cDNA | c.740T>C |
Protein | p.V247A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005268872 | chr12:g.68835902T>C | c.740T>C | p.V247A | RefSeq | GRCh38/hg38 |
XM_005268872.5 | chr12:g.68835902T>C | c.740T>C | p.V247A | RefSeq | GRCh38/hg38 |
NM_001367990.1 | chr12:g.68835902T>C | c.740T>C | p.V247A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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