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 R273H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 R273H lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). R273H results in increased proliferation, migration, invasion, and protein stability in culture (PMID: 37030635), increased Tbk1 interaction leading to decreased Tbk1 and Irf3 phosphorylation and loss of Irf3 activation in culture (PMID: 33545063), disrupts Dnmt3a complex formation similar to wild-type Tp53 (PMID: 31640986), however, results in loss of DNA binding, decreased Tp53 target gene expression, apoptosis resistance, and failure of G1 arrest in culture (PMID: 31395785), and confers a gain of function to Tp53 resulting in aberrant transcriptional activation and increased migration (PMID: 22114072, PMID: 14743206, PMID: 32002804).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon8 TP53 R273X TP53 R273H

TP53 mutant TP53 inact mut TP53 R273H

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.7673802C>T
cDNA c.818G>A
Protein p.R273H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126114.3 chr17:g.7673802C>T c.818G>A p.R273H RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673802C>T c.818G>A p.R273H RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673802C>T c.818G>A p.R273H RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673802C>T c.818G>A p.R273H RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673802C>T c.818G>A p.R273H RefSeq GRCh38/hg38
NM_000546 chr17:g.7673802C>T c.818G>A p.R273H RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673802C>T c.818G>A p.R273H RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673802C>T c.818G>A p.R273H RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673802C>T c.818G>A p.R273H RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673802C>T c.818G>A p.R273H RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673802C>T c.818G>A p.R273H RefSeq GRCh38/hg38
NM_001126112 chr17:g.7673802C>T c.818G>A p.R273H RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673802C>T c.818G>A p.R273H RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673802C>T c.818G>A p.R273H RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673802C>T c.818G>A p.R273H RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673802C>T c.818G>A p.R273H RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673802C>T c.818G>A p.R273H 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 R273H lung non-small cell carcinoma sensitive APR-246 + Cisplatin Preclinical Actionable In a preclinical study, the combination of APR-246 and Platinol (cisplatin) worked synergistically to inhibit growth of non-small lung cancer cells harboring TP53 R273H in culture (PMID: 26086967). 26086967