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.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.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
- essential hypertension
- Source Database
- DisGeNET
- Description
- Constitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themselves or by their interaction with other genes involved in blood pressure regulation, are associated with essential hypertension and/or salt-sensitive hypertension in several ethnic groups.
- Pubmed
- 20153824
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
- Year of publication
- 2010
Drugs