Varaico: Literature-Extracted Genetic Variants

RGS9BP

41 papers

RefSeq Summary

The protein encoded by this gene functions as a regulator of G protein-coupled receptor signaling in phototransduction. Studies in bovine and mouse show that this gene is expressed only in the retina,...

Pfam Domains

RGS9BP_Caa 204–235UCSCRegulator of G-protein signalling 9-binding protein C-terminal domain

Gene Aliases

HGNC Name

regulator of G protein signaling 9 binding protein

HGNC Alias Symbols

FLJ45744; PERRS; R9AP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_207391.3

p.K42N

c.126G>T

Surrounding Variants

2 papers

NM_207391.3

p.K42N

c.126G>C

1 paper

NM_207391.3

p.Q41*

c.121C>T

1 paper

NM_207391.3

p.Q48*

c.142C>T

1 paper

NM_207391.3

p.D32E

c.96C>A

1 paper

NM_207391.3

p.D32E

c.96C>G

1 paper

NM_207391.3

p.L25L

c.73C>T

3 papers

NM_207391.3

p.R65insFs

c.194_195insC

1 paper

NM_207391.3

p.T16delFs

c.47delC

2 papers

NM_207391.3

p.E71*

c.211G>T

1 paper

NM_207391.3

p.A8V

c.23C>T

3 papers

NM_207391.3

p.A96S

c.286G>T

1 paper

NM_207391.3

p.E98K

c.292G>A