Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 MUTATION
TP53 MUTATION
Associated Disease
Mammary Neoplasms
Source Database
DisGeNET
Description
We have predicted three deleterious coding non-synonymous single nucleotide polymorphisms rs11540654 (rs11540654>R110P), rs17849781 (rs17849781>P278A) and rs28934874 (rs28934874>P151T) in TP53 with a phenotype in breast tumors using computational tools SIFT, Polyphen-2 and MutDB.
Pubmed
25105660
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
7
Original source reporting the Gene Disease association
BeFree,CTD_human,CTD_mouse,GAD,LHGDN
DisGENET score for the Gene Disease association
0.352996795634515
Drugs