Annotation Detail
Information
- Associated Genes
- XRCC1
- Associated Variants
-
XRCC1 MUTATION
XRCC1 MUTATION
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg280Pro (p.R280P) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg280His (p.R280H) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg280Pro (p.R280P) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg280His (p.R280H) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 ) - Associated Disease
- Cervical Intraepithelial Neoplasia
- Source Database
- DisGeNET
- Description
- To evaluate contribution of single nucleotide polymorphisms (SNPs) of X-ray repair cross-complementing group 1 (XRCC1) gene to the risk of cervical carcinoma, we conducted a case-control study of 1012 patients including 539 carcinoma and 473 cervical intraepithelial neoplasia (CIN) and 800 normal women controls and genotyped three XRCC1 SNPs (Arg194Trp, Arg280His, and Arg399Gln).
- Pubmed
- 17504380
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00527694770136467
- Year of publication
- 2007
Drugs