Annotation Detail

Information
Associated Genes
GRK4
Associated Variants
GRK4 MUTATION
GRK4 MUTATION
GRK4 p.Arg65His (p.R65H) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Arg65Leu (p.R65L) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Ala142Gly (p.A142G) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Ala142Val (p.A142V) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Val486Ala (p.V486A) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Ala533Val (p.A533V) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Arg65His (p.R65H) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Arg65Leu (p.R65L) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Ala142Gly (p.A142G) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Ala142Val (p.A142V) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Val486Ala (p.V486A) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Ala533Val (p.A533V) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
Associated Disease
myocardial infarction
Source Database
DisGeNET
Description
We hypothesized that 3 nonsynonymous GRK4 single-nucleotide polymorphisms, R65L (rs2960306), A142V (rs1024323), and A486V (rs1801058), would be associated with blood pressure response to atenolol, but not hydrochlorothiazide, and would be associated with long-term cardiovascular outcomes (all-cause death, nonfatal myocardial infarction, nonfatal stroke) in participants treated with an atenolol-based versus verapamil-SR-based antihypertensive strategy.
Pubmed
22949529
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2012
Drugs