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Gene | TP53 |
Variant | R175L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 R175L is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R175L results in a decrease in Tp53 transactivation activity and reduced ability to induce apoptosis in cell culture (PMID: 16707427). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 R175X TP53 R175L TP53 mutant TP53 inact mut TP53 R175L |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675088C>A |
cDNA | c.524G>T |
Protein | p.R175L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |