Varaico: Literature-Extracted Genetic Variants

GRK2

235 papers

RefSeq Summary

This gene encodes a member of the G protein-coupled receptor kinase family of proteins. The encoded protein phosphorylates the beta-adrenergic receptor as well as a wide range of other substrates incl...

Pfam Domains

RGSaa 54–174UCSCRegulator of G protein signaling domain

Pkinaseaa 191–453UCSCProtein kinase domain

PHaa 559–652UCSCPH domain

Gene Aliases

HGNC Name

G protein-coupled receptor kinase 2

HGNC Previous Symbol

ADRBK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001619.5

p.M460V

c.1378A>G

Surrounding Variants

1 paper

NM_001619.5

p.D457V

c.1370A>T

1 paper

NM_001619.5

p.S455C

c.1364C>G

1 paper

NM_001619.5

p.S455A

c.1363T>G

1 paper

NM_001619.5

p.K465M

c.1394A>T

1 paper

NM_001619.5

p.R454L

c.1361G>T

2 papers

NM_001619.5

p.S450fs

c.1348_1349fs

4 papers

NM_001619.5

p.S450delFs

c.1348_1349delAG

1 paper

NM_001619.5

p.P469A

c.1405C>G

1 paper

NM_001619.5

p.P472A

c.1414C>G

2 papers

NM_001619.5

p.P473A

c.1417C>G

1 paper

NM_001619.5

p.P473S

c.1417C>T

2 papers

NM_001619.5

p.R474*

c.1420C>T