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| Gene | TP53 |
| Variant | L330A |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | TP53 L330A lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L330A results in a monomeric Tp53 protein and altered subcellular localization in cultured cells, and decreased MDM2-mediated mono- and polyubiquitination in an in vitro assay (PMID: 29549180). |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon9 TP53 L330A TP53 mutant TP53 inact mut TP53 L330A |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7673539_7673540delCTinsGC |
| cDNA | c.988_989delCTinsGC |
| Protein | p.L330A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |