Annotation Detail
Information
- Associated Genes
- XRCC3
- Associated Variants
-
XRCC3 p.Thr241Met (p.T241M), KLC1 c.1849-1239G>A
(
ENST00000555836.5,
ENST00000554280.5,
ENST00000557450.5,
ENST00000348520.10,
ENST00000554913.5,
ENST00000553264.5,
ENST00000555055.6,
ENST00000352127.11,
ENST00000334553.11,
ENST00000554974.5,
ENST00000452929.6 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
ERCC2 p.Lys751Ter (p.K751*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
XPC p.Gln939Lys (p.Q939K) ( ENST00000285021.12 )
XRCC4 p.Ala56Thr (p.A56T) ( ENST00000282268.7, ENST00000338635.10, ENST00000396027.9, ENST00000511817.1 )
PRKDC c.6464+375G>T ( ENST00000314191.7, ENST00000338368.7 )
XRCC3 p.Thr241Met (p.T241M), KLC1 c.1849-1239G>A ( ENST00000334553.11, ENST00000348520.10, ENST00000452929.6, ENST00000554280.5, ENST00000555836.5, ENST00000557450.5, ENST00000352127.11, ENST00000553264.5, ENST00000554913.5, ENST00000554974.5, ENST00000555055.6 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
ERCC2 p.Lys751Ter (p.K751*) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
ERCC2 p.Lys751Gln (p.K751Q) ( ENST00000391944.8, ENST00000391945.10, ENST00000684407.1 )
XPC p.Gln939Lys (p.Q939K) ( ENST00000285021.12 )
XRCC4 p.Ala56Thr (p.A56T) ( ENST00000282268.7, ENST00000338635.10, ENST00000396027.9, ENST00000511817.1 )
PRKDC c.6465+375G>T ( ENST00000314191.7, ENST00000338368.7 ) - Associated Disease
- liver carcinoma
- Source Database
- DisGeNET
- Description
- In this study, we investigated whether six polymorphisms (including rs25487, rs861539, rs7003908, rs28383151, rs13181, and rs2228001) in DNA repair genes (XPC, XRCC4, XRCC1, XRCC4, XPD, XRCC7, and XRCC3) interacted with AFB1, and the gene-environmental interactive role in the risk of HCC using hospital-based case-control study (including 1486 HCC cases and 1996 controls).
- Pubmed
- 25337275
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00753435906979193
- Year of publication
- 2014
Drugs