Annotation Detail

Information
Associated Genes
TP53
Associated Variants
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.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
osteosarcoma
Source Database
DisGeNET
Description
Transfection of mutant p53 (R175H) to p53-null osteosarcoma Saos-2 cells suppressed apoptosis induced by doxorubicin (DOX), cisplatin and gamma radiation.
Pubmed
15578696
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.382163696009582
Year of publication
2005
Drugs