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 R181E
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 R181E lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R181E results in a loss of DNA binding ability and activation of downstream targets, increased accumulation of Tp53, and fails to induce apoptosis and inhibit proliferation in culture, and induces tumor formation in animal models (PMID: 31483066).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 inact mut TP53 R181E

TP53 mutant TP53 exon5 TP53 R181E

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.7675069_7675071delCGCinsGAG
cDNA c.541_543delCGCinsGAG
Protein p.R181E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126114 chr17:g.7675069_7675071delGCGinsCTC c.541_543delCGCinsGAG p.R181E RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7675069_7675071delCGCinsGAG c.541_543delCGCinsGAG p.R181E RefSeq GRCh38/hg38
NM_001126112 chr17:g.7675069_7675071delGCGinsCTC c.541_543delCGCinsGAG p.R181E RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7675069_7675071delCGCinsGAG c.541_543delCGCinsGAG p.R181E RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7675069_7675071delCGCinsGAG c.541_543delCGCinsGAG p.R181E RefSeq GRCh38/hg38
NM_001126113 chr17:g.7675069_7675071delGCGinsCTC c.541_543delCGCinsGAG p.R181E RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7675069_7675071delCGCinsGAG c.541_543delCGCinsGAG p.R181E RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7675069_7675071delCGCinsGAG c.541_543delCGCinsGAG p.R181E RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7675069_7675071delCGCinsGAG c.541_543delCGCinsGAG p.R181E RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7675069_7675071delCGCinsGAG c.541_543delCGCinsGAG p.R181E RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7675069_7675071delCGCinsGAG c.541_543delCGCinsGAG p.R181E RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7675069_7675071delCGCinsGAG c.541_543delCGCinsGAG p.R181E RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7675069_7675071delCGCinsGAG c.541_543delCGCinsGAG p.R181E RefSeq GRCh38/hg38
NM_000546 chr17:g.7675069_7675071delGCGinsCTC c.541_543delCGCinsGAG p.R181E RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7675069_7675071delCGCinsGAG c.541_543delCGCinsGAG p.R181E RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7675069_7675071delCGCinsGAG c.541_543delCGCinsGAG p.R181E RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7675069_7675071delCGCinsGAG c.541_543delCGCinsGAG p.R181E 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 R181E Advanced Solid Tumor no benefit Nutlin-3a Preclinical - Cell culture Actionable In a preclinical study, Nutlin-3 treatment did not reduce cell proliferation and viability in transformed mouse cells expressing TP53 R181E in culture (PMID: 31483066). 31483066
TP53 R181E lung adenocarcinoma sensitive Doxorubicin + Nutlin-3a Preclinical - Cell culture Actionable In a preclinical study, a lung adenocarcinoma cell line expressing TP53 R181E demonstrated enhanced sensitivity to Adriamycin (doxorubicin) treatment when combined with Nutlin-3, and induced apoptosis in culture (PMID: 31483066). 31483066
TP53 R181E Advanced Solid Tumor sensitive Doxorubicin + Nutlin-3a Preclinical - Cell culture Actionable In a preclinical study, Nutlin-3 and Adriamycin (doxorubicin) combination treatment inhibited proliferation and viability of transformed mouse cells expressing TP53 R181E in culture (PMID: 31483066). 31483066
TP53 R181E Advanced Solid Tumor sensitive Doxorubicin + SAR405838 Preclinical - Cell culture Actionable In a preclinical study, SAR405838 and Adriamycin (doxorubicin) combination treatment induced cytotoxicity in transformed mouse cells expressing TP53 R181E in culture (PMID: 31483066). 31483066
TP53 R181E Advanced Solid Tumor sensitive Doxorubicin + Idasanutlin Preclinical - Cell culture Actionable In a preclinical study, Idasanutlin (RG7388) and Adriamycin (doxorubicin) combination treatment induced cytotoxicity in transformed mouse cells expressing TP53 R181E in culture (PMID: 31483066). 31483066
TP53 R181E Advanced Solid Tumor sensitive Doxorubicin + RG7112 Preclinical - Cell culture Actionable In a preclinical study, RG7112 (RO5045337) and Adriamycin (doxorubicin) combination treatment induced cytotoxicity in transformed mouse cells expressing TP53 R181E in culture (PMID: 31483066). 31483066