Varaico: Literature-Extracted Genetic Variants

Gene:RGS3
Variant:p.L5P

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.L5P
c.14T>C
Surrounding Variants
1 paper
NM_001394167.1
p.L5R
c.14T>G
1 paper
NM_001394167.1
p.H6Y
c.16C>T
1 paper
NM_001394167.1
p.H6Q
c.18C>A
1 paper
NM_001394167.1
p.H6Q
c.18C>G
1 paper
NM_001394167.1
p.R7G
c.19C>G
2 papers
NM_001394167.1
p.R7C
c.19C>T
1 paper
NM_001394167.1
p.R3H
c.8G>A
1 paper
NM_001394167.1
p.R7H
c.20G>A
1 paper
NM_001394167.1
p.R3P
c.8G>C
1 paper
NM_001394167.1
p.R3C
c.7C>T
2 papers
NM_001394167.1
p.V8I
c.22G>A
1 paper
NM_001394167.1
p.E2A
c.5A>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."