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

1 paper

NM_207391.3

p.P111fs

c.331_332fs

Surrounding Variants

1 paper

NM_207391.3

p.R110_R114delFs

c.330_342del13

1 paper

NM_207391.3

p.P108fs

c.322_323fs

1 paper

NM_207391.3

p.G119fs

c.355_356fs

2 papers

NM_207391.3

p.F103_R109delFs

c.307_326del20

1 paper

NM_207391.3

p.E98K

c.292G>A

3 papers

NM_207391.3

p.A96S

c.286G>T

2 papers

NM_207391.3

p.E71*

c.211G>T

1 paper

NM_207391.3

p.E153K

c.457G>A

3 papers

NM_207391.3

p.R65insFs

c.194_195insC

1 paper

NM_207391.3

p.Q48*

c.142C>T

2 papers

NM_207391.3

p.K42N

c.126G>C

2 papers

NM_207391.3

p.K42N

c.126G>T