Varaico: Literature-Extracted Genetic Variants

Gene:RGS3
Variant:p.R329C

RGS3

46 papers

RefSeq Summary

This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing ...

Pfam Domains

C2aa 38–146UCSCC2 domain
RGSaa 43–158UCSCRegulator of G protein signaling domain
C2aa 150–258UCSCC2 domain
C2aa 150–258UCSCC2 domain
PDZaa 187–261UCSCPDZ domain
PDZaa 299–373UCSCPDZ domain

Gene Aliases

HGNC Name

regulator of G protein signaling 3

HGNC Alias Symbols

C2PA; FLJ20370; PDZ-RGS3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001394167.1
p.R329C
c.985C>T
Surrounding Variants
1 paper
NM_001394167.1
p.G325C
c.973G>T
1 paper
NM_001394167.1
p.R336L
c.1007G>T
1 paper
NM_001394167.1
p.Q303*
c.907C>T
1 paper
NM_001394167.1
p.A360T
c.1078G>A
1 paper
NM_001394167.1
p.Q367R
c.1100A>G
1 paper
NM_001394167.1
p.L287V
c.859C>G
1 paper
NM_001394167.1
p.R277Q
c.830G>A
1 paper
NM_001394167.1
p.R277P
c.830G>C
1 paper
NM_001394167.1
p.R277W
c.829C>T
1 paper
NM_001394167.1
p.G274E
c.821G>A
1 paper
NM_001394167.1
p.P265S
c.793C>T
1 paper
NM_001394167.1
p.M263T
c.788T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."