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

1 paper

NM_003835.4

p.M50T

c.149T>C

Surrounding Variants

1 paper

NM_003835.4

p.M50K

c.149T>A

1 paper

NM_003835.4

p.T51A

c.151A>G

1 paper

NM_003835.4

p.T51I

c.152C>T

1 paper

NM_003835.4

p.P47R

c.140C>G

1 paper

NM_003835.4

p.P47fs

c.139_140fs

2 papers

NM_003835.4

p.V46I

c.136G>A

1 paper

NM_003835.4

p.L42Q

c.125T>A

1 paper

NM_003835.4

p.R40T

c.119G>C

2 papers

NM_003835.4

p.R35Q

c.104G>A

1 paper

NM_003835.4

p.V34D

c.101T>A

1 paper

NM_003835.4

p.T32I

c.95C>T

1 paper

NM_003835.4

p.N29K

c.87C>A