Annotation Detail
Information
- Associated Genes
- SOD2
- Associated Variants
-
SOD2 MUTATION
SOD2 MUTATION
NQO1 p.Pro187Ser (p.P187S) ( ENST00000439109.6, ENST00000379046.6, ENST00000379047.7, ENST00000564043.1, ENST00000320623.10, ENST00000561500.5 )
SOD3 p.Arg231Gly (p.R231G) ( ENST00000382120.4 )
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 )
NQO2 p.Leu47Phe (p.L47F) ( ENST00000338130.7, ENST00000380430.6, ENST00000380441.5, ENST00000380454.8, ENST00000380455.11, ENST00000606474.1 )
NQO2 p.Gly230Arg (p.G230R) ( ENST00000338130.7, ENST00000380430.6, ENST00000380441.5, ENST00000380454.8, ENST00000380455.11 )
NQO2 p.Gly230Arg (p.G230R) ( ENST00000338130.7, ENST00000380430.6, ENST00000380441.5, ENST00000380454.8, ENST00000380455.11 )
NQO1 p.Pro187Ser (p.P187S) ( ENST00000320623.10, ENST00000379046.6, ENST00000379047.7, ENST00000439109.6, ENST00000561500.5, ENST00000564043.1 )
SOD3 p.Arg231Gly (p.R231G) ( ENST00000382120.4 )
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 )
NQO2 p.Leu47Phe (p.L47F) ( ENST00000338130.7, ENST00000380430.6, ENST00000380441.5, ENST00000380454.8, ENST00000380455.11, ENST00000606474.1 )
NQO2 p.Gly230Arg (p.G230R) ( ENST00000338130.7, ENST00000380430.6, ENST00000380441.5, ENST00000380454.8, ENST00000380455.11 )
NQO2 p.Gly230Arg (p.G230R) ( ENST00000338130.7, ENST00000380430.6, ENST00000380441.5, ENST00000380454.8, ENST00000380455.11 ) - Associated Disease
- pancreatic carcinoma
- Source Database
- DisGeNET
- Description
- According to the assumption that genetic variation in carcinogen metabolism further modifies the risk of exposure-related cancers, an association of functional polymorphisms in oxidative stress-modifying genes superoxide dismutase 2 (SOD2 [Ala16Val, rs4880]), SOD3 (Arg231Gly, rs1799895), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1 [Pro187Ser, rs1800566], and NQO2 (Phe47Leu, rs1143684) with pancreatic cancer risk was studied.
- Pubmed
- 20966810
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.121900093104562
- Year of publication
- 2011
Drugs