Annotation Detail

Information
Associated Genes
HTR2C
Associated Variants
HTR2C p.Cys23= (p.C23=) ( ENST00000276198.6, ENST00000371950.3, ENST00000371951.5 )
HTR2C p.Ser23Cys (p.S23C) ( ENST00000276198.6, ENST00000371950.3, ENST00000371951.5 )
Associated Disease
Recurrent major depressive episodes
Source Database
DisGeNET
Description
We examined a structural variant of the serotonin 2C (5-HT2C) receptor gene (HTR2C) that gives rise to a cysteine to serine substitution in the N terminal extracellular domain of the receptor protein (cys23ser),(5) in 513 patients with recurrent major depression (MDD-R), 649 patients with bipolar (BP) affective disorder and 901 normal controls.
Pubmed
11526472
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2001
Drugs