Annotation Detail
Information
- Associated Genes
- BAX
- Associated Variants
-
TP53 p.Arg283His (p.R283H)
(
ENST00000269305.9,
ENST00000359597.8,
ENST00000413465.6,
ENST00000420246.6,
ENST00000620739.4,
ENST00000622645.4,
ENST00000714356.1,
ENST00000714357.1,
ENST00000714359.1,
ENST00000714408.1,
ENST00000445888.6,
ENST00000455263.6,
ENST00000504290.5,
ENST00000504937.5,
ENST00000510385.5,
ENST00000576024.2,
ENST00000604348.6,
ENST00000610623.4,
ENST00000618944.4,
ENST00000619186.4,
ENST00000610292.4,
ENST00000610538.4,
ENST00000619485.4,
ENST00000714409.1 )
TP53 p.Arg283His (p.R283H) ( ENST00000269305.9, ENST00000714356.1, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, 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, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 ) - Associated Disease
- glioblastoma
- Source Database
- DisGeNET
- Description
- Functional analysis of the p53 alleles present in the patient's tumor indicated that the germ-line p53(R283H) could transactivate the CDKN1A((p21, WAF1, cip1, SDI1)) but not the BAX gene and retained the ability to induce growth arrest of human glioblastoma cells.
- Pubmed
- 12019170
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00734879358949647
- Year of publication
- 2002
Drugs