Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | TP53 |
Variant | R175P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 R175P lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R175P (corresponds to R172P in mouse) demonstrates chromosomal stability, cell cycle arrest (PMID: 8631304, PMID: 14702042), recruitment to DNA damage, ability to recruit 53Bp1 and Ddb1 (PMID: 35235448), and induces p21 expression similar to wild-type Tp53, however, fails to induce apoptosis and reduce colony formation (PMID: 8631304, PMID: 14702042), and results in decreased transcriptional activity in cultured cells (PMID: 35235448), and therefore, its effect on Tp53 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 R175X TP53 R175P |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675088C>G |
cDNA | c.524G>C |
Protein | p.R175P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407266.1 | chr17:g.7675088C>G | c.524G>C | p.R175P | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7675088C>G | c.524G>C | p.R175P | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7675088C>G | c.524G>C | p.R175P | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7675088C>G | c.524G>C | p.R175P | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7675088C>G | c.524G>C | p.R175P | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7675088C>G | c.524G>C | p.R175P | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7675088C>G | c.524G>C | p.R175P | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7675088C>G | c.524G>C | p.R175P | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7675088C>G | c.524G>C | p.R175P | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7675088C>G | c.524G>C | p.R175P | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7675088C>G | c.524G>C | p.R175P | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7675088C>G | c.524G>C | p.R175P | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7675088C>G | c.524G>C | p.R175P | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7675088C>G | c.524G>C | p.R175P | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7675088C>G | c.524G>C | p.R175P | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7675088C>G | c.524G>C | p.R175P | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7675088C>G | c.524G>C | p.R175P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 R175P | lung adenocarcinoma | no benefit | Doxorubicin + Nutlin-3a | Preclinical - Cell culture | Actionable | In a preclinical study, Nutlin-3 and Adriamycin (doxorubicin) combination treatment did not induce apoptosis in a lung adenocarcinoma cell line expressing TP53 R175P in culture (PMID: 31483066). | 31483066 |