Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 p.Pro72Arg (p.P72R) ( ENST00000359597.8, ENST00000413465.6, ENST00000604348.6, ENST00000269305.9, ENST00000455263.6, ENST00000420246.6, ENST00000445888.6, ENST00000576024.2, ENST00000610292.4, ENST00000610538.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Pro72His (p.P72H) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
WRAP53 p.Phe150= (p.F150=) ( ENST00000698742.1, ENST00000316024.9, ENST00000431639.6, ENST00000534050.5, ENST00000698746.1, ENST00000396463.7, ENST00000457584.6 )
WRAP53 c.531-128G>A ( ENST00000534050.5, ENST00000431639.6, ENST00000698746.1, ENST00000457584.6, ENST00000396463.7, ENST00000698742.1, ENST00000316024.9 )
TP53 p.Pro72Arg (p.P72R) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Pro72His (p.P72H) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
WRAP53 p.Phe150= (p.F150=) ( ENST00000316024.9, ENST00000396463.7, ENST00000431639.6, ENST00000457584.6, ENST00000534050.5, ENST00000698742.1, ENST00000698746.1 )
WRAP53 c.531-128G>A ( ENST00000316024.9, ENST00000396463.7, ENST00000431639.6, ENST00000457584.6, ENST00000534050.5, ENST00000698742.1, ENST00000698746.1 )
Associated Disease
ovarian carcinoma
Source Database
DisGeNET
Description
In conclusion SNPs in WRAP53 (rs2287497 and rs2287498) have stronger association with an ovarian cancer risk than rs1042522 in TP53.
Pubmed
23192612
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0847340639572041
Year of publication
2012
Drugs