Annotation Detail
Information
- Associated Genes
- XPC
- Associated Variants
-
XPC MUTATION
XPC MUTATION
ERCC4 p.Arg415Gln (p.R415Q) ( ENST00000311895.8, ENST00000682617.1 )
ERCC4 p.Val498Ala (p.V498A) ( ENST00000311895.8, ENST00000682617.1 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
POLD1 p.Arg119His (p.R119H) ( ENST00000440232.7, ENST00000593887.2, ENST00000595904.6, ENST00000599857.7, ENST00000601098.6, ENST00000613923.6, ENST00000644560.2, ENST00000687454.1 )
MSH6 p.Gly39Glu (p.G39E) ( ENST00000540021.6, ENST00000234420.11, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2 )
MSH6 p.Gly39Ala (p.G39A) ( ENST00000234420.11, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2 )
MSH6 p.Val800Ala (p.V800A) ( ENST00000234420.11, ENST00000411819.2, ENST00000420813.6, ENST00000455383.6, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2, ENST00000405808.5 )
XPC p.Ala499Val (p.A499V) ( ENST00000285021.12 )
MSH3 p.Gln949Arg (p.Q949R) ( ENST00000265081.7, ENST00000658259.1, ENST00000667069.1 )
ERCC4 p.Arg415Gln (p.R415Q) ( ENST00000311895.8, ENST00000682617.1 )
ERCC4 p.Val498Ala (p.V498A) ( ENST00000311895.8, ENST00000682617.1 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
POLD1 p.Arg119His (p.R119H) ( ENST00000440232.7, ENST00000593887.2, ENST00000595904.6, ENST00000599857.7, ENST00000601098.6, ENST00000613923.6, ENST00000644560.2, ENST00000687454.1 )
MSH6 p.Gly39Glu (p.G39E) ( ENST00000234420.11, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2 )
MSH6 p.Gly39Ala (p.G39A) ( ENST00000234420.11, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2 )
MSH6 p.Val800Ala (p.V800A) ( ENST00000234420.11, ENST00000411819.2, ENST00000420813.6, ENST00000455383.6, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2, ENST00000405808.5 )
XPC p.Ala499Val (p.A499V) ( ENST00000285021.12 )
MSH3 p.Gln949Arg (p.Q949R) ( ENST00000265081.7, ENST00000658259.1, ENST00000667069.1 ) - Associated Disease
- Triple Negative Breast Neoplasms
- Source Database
- DisGeNET
- Description
- Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3 R940Q (rs184967), MSH6 G39E (rs1042821), POLD1 R119H (rs1726801), XRCC1 R194W (rs1799782), and XPC A499V (rs2228000) and/or deficiencies in 3 micronutrients (zinc, folate, and β-carotene).
- Pubmed
- 25023197
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2015
Drugs