Varaico: Literature-Extracted Genetic Variants

Gene:RGS9
Variant:p.N29I

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.N29I
c.86A>T
Surrounding Variants
1 paper
NM_003835.4
p.N29K
c.87C>A
1 paper
NM_003835.4
p.N29K
c.87C>G
2 papers
NM_003835.4
p.M27V
c.79A>G
1 paper
NM_003835.4
p.T32I
c.95C>T
1 paper
NM_003835.4
p.V34D
c.101T>A
2 papers
NM_003835.4
p.V24M
c.70G>A
2 papers
NM_003835.4
p.R35Q
c.104G>A
1 paper
NM_003835.4
p.L23F
c.67C>T
3 papers
NM_003835.4
p.A22V
c.65C>T
1 paper
NM_003835.4
p.A22S
c.64G>T
1 paper
NM_003835.4
p.K19_I20Splc
c.58-2A>G
1 paper
NM_003835.4
p.R40T
c.119G>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."