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Gene | TP53 |
Variant | R181L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 R181L lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R181L results in cell cycle arrest similar to wild-type Tp53, however, leads to a selective loss of DNA binding and activation of a downstream promoter, IGF-BP3 box B, and fails to induce apoptosis in culture (PMID: 31483066, PMID: 20471942, PMID: 8756654). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 R181L TP53 mutant TP53 inact mut TP53 R181L |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675070C>A |
cDNA | c.542G>T |
Protein | p.R181L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |