Gene Variant Detail

Contact

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@jax.org

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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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_001126114 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_001126112.2 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_001407266.1 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_001126113.3 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
NM_001407270.1 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_001126113.2 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_001126113 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_000546.6 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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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