Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 p.Arg337Leu (p.R337L) ( ENST00000413465.6, ENST00000504937.5, ENST00000455263.6, ENST00000269305.9, ENST00000420246.6, ENST00000359597.8, ENST00000445888.6, ENST00000576024.2, ENST00000510385.5, ENST00000604348.6, ENST00000504290.5, ENST00000714409.1, 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.Arg337Pro (p.R337P) ( ENST00000445888.6, ENST00000420246.6, ENST00000359597.8, ENST00000504937.5, ENST00000576024.2, ENST00000269305.9, ENST00000455263.6, ENST00000510385.5, ENST00000413465.6, ENST00000604348.6, ENST00000504290.5, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Arg337His (p.R337H) ( ENST00000504290.5, ENST00000510385.5, ENST00000455263.6, ENST00000269305.9, ENST00000413465.6, ENST00000604348.6, ENST00000359597.8, ENST00000445888.6, ENST00000420246.6, ENST00000576024.2, ENST00000504937.5, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1 )
TP53 p.Arg337Leu (p.R337L) ( 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.Arg337Pro (p.R337P) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000604348.6, ENST00000455263.6, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, 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.Arg337His (p.R337H) ( 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 )
Associated Disease
Tumors of Adrenal Cortex
Source Database
DisGeNET
Description
We also evaluated TDG expression in patients with adrenocortical tumors (ADR) with and without the p.R337H TP53 mutation.
Pubmed
25945745
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0123542994187808
Year of publication
2015
Drugs