Annotation Detail

Information
Associated Genes
PCNA
Associated Variants
NSRP1 c.20+302A>C ( ENST00000247026.10, ENST00000612959.4, ENST00000584423.5, ENST00000479218.6 )
NSRP1 c.20+302A>T ( ENST00000479218.6, ENST00000247026.10, ENST00000584423.5, ENST00000612959.4 )
NSRP1 c.20+302A>C ( ENST00000247026.10, ENST00000479218.6, ENST00000584423.5, ENST00000612959.4 )
NSRP1 c.20+302A>T ( ENST00000247026.10, ENST00000479218.6, ENST00000584423.5, ENST00000612959.4 )
Associated Disease
Malignant neoplasm of breast
Source Database
DisGeNET
Description
Our data showed that two out of five breast cancer cell lines and 8.77 % (10/114) of tumors underwent somatic mutations of the rs6505162 SNP, and somatic mutation state was significantly correlated with the expression of clinicopathologic variables, proliferating cell nuclear antigen (PCNA) and mutant p53.
Pubmed
25663458
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0364168181204789
Year of publication
2015
Drugs