Varaico: Literature-Extracted Genetic Variants

RGS9

105 papers

RefSeq Summary

This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photo...

Pfam Domains

DEPaa 33–103UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)

RGS_DHEXaa 106–205UCSCRegulator of G-protein signalling DHEX domain

G-gammaaa 219–283UCSCGGL domain

RGSaa 302–416UCSCRegulator of G protein signaling domain

Gene Aliases

HGNC Name

regulator of G protein signaling 9

HGNC Alias Symbols

PERRS; RGS9L; MGC26458; MGC111763

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_003835.4

p.R128*

c.382C>T

Surrounding Variants

1 paper

NM_003835.4

p.R128Q

c.383G>A

1 paper

NM_003835.4

p.I130T

c.389T>C

1 paper

NM_003835.4

p.K131*

c.391A>T

1 paper

NM_003835.4

p.L125V

c.373C>G

1 paper

NM_003835.4

p.Y124C

c.371A>G

1 paper

NM_003835.4

p.I123V

c.367A>G

1 paper

NM_003835.4

p.G134E

c.401G>A

1 paper

NM_003835.4

p.A122T

c.364G>A

1 paper

NM_003835.4

p.Y121H

c.361T>C

1 paper

NM_003835.4

p.D120N

c.358G>A

1 paper

NM_003835.4

p.T119N

c.356C>A

1 paper

NM_003835.4

p.T119I

c.356C>T