Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
TP53 p.Arg273His (p.R273H)
(
ENST00000510385.5,
ENST00000576024.2,
ENST00000604348.6,
ENST00000714357.1,
ENST00000269305.9,
ENST00000359597.8,
ENST00000413465.6,
ENST00000420246.6,
ENST00000445888.6,
ENST00000455263.6,
ENST00000504290.5,
ENST00000504937.5,
ENST00000714359.1,
ENST00000610292.4,
ENST00000610538.4,
ENST00000714409.1,
ENST00000610623.4,
ENST00000618944.4,
ENST00000619186.4,
ENST00000714408.1,
ENST00000619485.4,
ENST00000620739.4,
ENST00000622645.4,
ENST00000714356.1 )
TP53 p.Arg273His (p.R273H) ( ENST00000445888.6, ENST00000455263.6, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 ) - Associated Disease
- acute myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- The R273H mutation was used to create isogenic AML cell lines using MOLM13 and K526 lines. R273H/- cells showed resistance to chemotherapeutic agents and failure to induce p21, indicating disruption of p53 function. ChIP assays demonstrated reduced p53 occupation across the genome for most p53 variants tested, including R273H. RNAseq studies determined that a novel gene expression program was not induced in R273H cells at baseline or with DNA damage induced p53 signal activation, and that the signature of gene expression was most similar to that of p53 loss, indicating that R273H mutation does not induce a neomophic p53 function.
- Variant Origin
- Unknown
- Variant Origin
- Unknown
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7530
- Gene URL
- https://civic.genome.wustl.edu/links/genes/45
- Variant URL
- https://civic.genome.wustl.edu/links/variants/122
- Rating
- 4
- Evidence Type
- Functional
- Disease
- Acute Myeloid Leukemia
- Evidence Direction
- Does Not Support
- Evidence Level
- D
- Clinical Significance
- Neomorphic
- Pubmed
- 31395785
Drugs