Annotation Detail

Information
Associated Genes
TCN2
Associated Variants
TCN2 p.Ile23Val (p.I23V) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Gly94Ser (p.G94S) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Arg259His (p.R259H) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Arg259Pro (p.R259P) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Ser348Phe (p.S348F) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Ser375Phe (p.S375F) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Arg399Gln (p.R399Q) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Arg399Pro (p.R399P) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Ile23Val (p.I23V) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Gly94Ser (p.G94S) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Arg259His (p.R259H) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Arg259Pro (p.R259P) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Ser348Phe (p.S348F) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Ser375Phe (p.S375F) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Arg399Gln (p.R399Q) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Arg399Pro (p.R399P) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
Associated Disease
Cardiovascular Diseases
Source Database
DisGeNET
Description
We examined five sequence variants, i.e., I23V, G94S, P259R, S348F, and R399Q, in the TC gene as possible determinants of tHcy and, concordantly, as possible risk factors for CVD in 190 vascular disease patients and 601 controls.
Pubmed
12194912
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2002
Drugs