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
Malignant neoplasm of breast
Source Database
DisGeNET
Description
Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil.
Pubmed
24936644
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.24
Year of publication
2014
Drugs