Annotation Detail
Information
- Associated Genes
- PRIMA1
- Associated Variants
-
TP53 p.Arg273Leu (p.R273L)
(
ENST00000604348.6,
ENST00000504937.5,
ENST00000576024.2,
ENST00000510385.5,
ENST00000620739.4,
ENST00000269305.9,
ENST00000359597.8,
ENST00000413465.6,
ENST00000420246.6,
ENST00000445888.6,
ENST00000622645.4,
ENST00000714356.1,
ENST00000714357.1,
ENST00000714359.1,
ENST00000714408.1,
ENST00000714409.1,
ENST00000455263.6,
ENST00000504290.5,
ENST00000610292.4,
ENST00000610538.4,
ENST00000610623.4,
ENST00000618944.4,
ENST00000619186.4,
ENST00000619485.4 )
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.Arg248Trp (p.R248W) ( ENST00000576024.2, ENST00000510385.5, ENST00000269305.9, ENST00000604348.6, ENST00000504937.5, ENST00000359597.8, ENST00000714409.1, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1 )
TP53 p.Arg175Leu (p.R175L) ( ENST00000576024.2, ENST00000445888.6, ENST00000510385.5, ENST00000504290.5, ENST00000504937.5, ENST00000604348.6, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000620739.4, ENST00000622645.4, ENST00000455263.6, ENST00000714356.1, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Arg175His (p.R175H) ( ENST00000510385.5, ENST00000504937.5, ENST00000604348.6, ENST00000576024.2, ENST00000445888.6, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000455263.6, ENST00000420246.6, ENST00000504290.5, ENST00000714357.1, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Arg273Leu (p.R273L) ( ENST00000445888.6, ENST00000455263.6, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1, 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 )
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 )
TP53 p.Arg248Trp (p.R248W) ( ENST00000269305.9, 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, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Arg175Leu (p.R175L) ( ENST00000619485.4, ENST00000620739.4, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, 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, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Arg175His (p.R175H) ( ENST00000359597.8, ENST00000269305.9, 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, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 ) - Associated Disease
- Glioma
- Source Database
- DisGeNET
- Description
- Overexpression of the paradigmatic p53 mutants p53(R175H), p53(R248W) and p53(R273H) in the p53 null glioma cell line LN-308 reveals that P53R3 induces p53-dependent antiproliferative effects with much higher specificity and over a wider range of concentrations than the previously described p53 rescue drug p53 reactivation and induction of massive apoptosis (PRIMA-1).
- Pubmed
- 18202704
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2008
Drugs