Annotation Detail
Information
- Associated Genes
- PCNA
- Associated Variants
-
PCNA MUTATION
PCNA MUTATION
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 ) - Associated Disease
- Glioma
- Source Database
- DisGeNET
- Description
- The XRCC1 Arg194Trp variant affects the proliferating cell nuclear antigen( PCNA) binding region, which suggests that this mutation may contribute to gliomagenesis and a number of articles have examine the association between XRCC1 Arg194Trp and the susceptibility to glioma.However, the results were conflicting.
- Pubmed
- 25227852
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00671010193188688
- Year of publication
- 2015
Drugs