Annotation Detail

Information
Associated Genes
XRCC1
Associated Variants
XRCC1 MUTATION
XRCC1 MUTATION
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
Associated Disease
cervix carcinoma
Source Database
DisGeNET
Description
XRCC1 Arginine194Tryptophan and GGH-401Cytosine/Thymine polymorphisms are associated with response to platinum-based neoadjuvant chemotherapy in cervical cancer.
Pubmed
18851872
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0129968722514521
Year of publication
2008
Drugs