Annotation Detail

Information
Associated Genes
XRCC1
Associated Variants
XRCC1 MUTATION
XRCC1 MUTATION
XRCC1 p.Arg339Gln (p.R339Q) ( 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.Arg339Gln (p.R339Q) ( 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
stomach carcinoma
Source Database
DisGeNET
Description
XRCC1 genetic polymorphism Arg339Gln, Arg194Trp, Arg280His and gastric cancer risk: an evidence based decision.
Pubmed
25335737
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0084146980344894
Year of publication
2015
Drugs