Annotation Detail
Information
- Associated Genes
- MUTYH
- Associated Variants
-
APEX1 p.Asp148Glu (p.D148E)
(
ENST00000557054.1,
ENST00000398030.8,
ENST00000216714.8,
ENST00000555414.5 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000555414.5, ENST00000216714.8, ENST00000557054.1, ENST00000398030.8 )
LIG3 p.Arg867His (p.R867H) ( ENST00000378526.9, ENST00000262327.9 )
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 )
PARP1 p.Val762Ala (p.V762A) ( ENST00000366794.10, ENST00000677203.1 )
MUTYH c.-127C>T, TOE1 c.52+77G>A, ENSG00000288208 c.541-5870C>T ( ENST00000372090.6, ENST00000372110.7, ENST00000710952.2, ENST00000529892.6, ENST00000372098.7, ENST00000672818.3, ENST00000372115.7, ENST00000529984.5 )
MUTYH c.-127C>A, TOE1 c.52+77G>T, ENSG00000288208 c.541-5870C>A ( ENST00000710952.2, ENST00000372110.7, ENST00000372090.6, ENST00000672818.3, ENST00000372098.7, ENST00000529892.6, ENST00000529984.5, ENST00000372115.7 )
OGG1 c.948+273C>G ( ENST00000302003.11, ENST00000302008.12, ENST00000302036.12, ENST00000339511.9, ENST00000344629.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 )
LIG3 p.Arg867His (p.R867H) ( ENST00000262327.9, ENST00000378526.9 )
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 )
PARP1 p.Val762Ala (p.V762A) ( ENST00000366794.10, ENST00000677203.1 )
MUTYH c.-127C>T, TOE1 c.52+77G>A, ENSG00000288208 c.541-5870C>T ( ENST00000372098.7, ENST00000372110.7, ENST00000372115.7, ENST00000529892.6, ENST00000529984.5, ENST00000672818.3, ENST00000710952.2, ENST00000372090.6 )
MUTYH c.-127C>A, TOE1 c.52+77G>T, ENSG00000288208 c.541-5870C>A ( ENST00000372098.7, ENST00000372110.7, ENST00000372115.7, ENST00000529892.6, ENST00000529984.5, ENST00000672818.3, ENST00000710952.2, ENST00000372090.6 )
OGG1 c.948+273C>G ( ENST00000302003.11, ENST00000302008.12, ENST00000302036.12, ENST00000339511.9, ENST00000344629.12, ENST00000352937.6, ENST00000383826.9, ENST00000449570.6, ENST00000707074.1 ) - Associated Disease
- melanoma
- Source Database
- DisGeNET
- Description
- We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs25489, rs1799782, APEX1 rs1130409, OGG1 rs1052133, LIG3 rs3136025 and MUTYH rs3219466, may contribute to risk of melanoma.
- Pubmed
- 22687647
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2012
Drugs