Varaico: Literature-Extracted Genetic Variants

Gene:RGS9
Variant:p.G379E

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.G379E
c.1136G>A
Surrounding Variants
1 paper
NM_003835.4
p.G379A
c.1136G>C
1 paper
NM_003835.4
p.K378R
c.1133A>G
1 paper
NM_003835.4
p.H382Q
c.1146C>A
1 paper
NM_003835.4
p.H382Q
c.1146C>G
1 paper
NM_003835.4
p.P383R
c.1148C>G
1 paper
NM_003835.4
p.I375N
c.1124T>A
1 paper
NM_003835.4
p.I375S
c.1124T>G
1 paper
NM_003835.4
p.D374N
c.1120G>A
1 paper
NM_003835.4
p.R385H
c.1154G>A
1 paper
NM_003835.4
p.R385P
c.1154G>C
1 paper
NM_001165933.2
p.M370K
c.1109T>A
NM_003835.4
p.M373K
c.1118T>A
1 paper
NM_003835.4
p.T372I
c.1115C>T
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