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| Gene | TP53 |
| Variant | R181H |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | TP53 R181H lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R181H results in colony growth similar to wild-type Tp53 in cultured cells (PMID: 33257846), but decreased transactivation activity (PMID: 34907344), and therefore, is predicted to lead to a loss of Tp53 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon5 TP53 R181H TP53 mutant TP53 inact mut TP53 R181H |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7675070C>T |
| cDNA | c.542G>A |
| Protein | p.R181H |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |