Varaico: Literature-Extracted Genetic Variants

Gene:RGS9
Variant:p.I93V

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.I93V
c.277A>G
Surrounding Variants
1 paper
NM_003835.4
p.L92V
c.274C>G
3 papers
NM_003835.4
p.P96A
c.286C>G
1 paper
NM_003835.4
p.D97V
c.290A>T
1 paper
NM_003835.4
p.D88V
c.263A>T
1 paper
NM_003835.4
p.G98S
c.292G>A
1 paper
NM_003835.4
p.D88Y
c.262G>T
2 papers
NM_003835.4
p.S99N
c.296G>A
1 paper
NM_003835.4
p.L100F
c.298C>T
1 paper
NM_003835.4
p.P85L
c.254C>T
1 paper
NM_003835.4
p.P85S
c.253C>T
1 paper
NM_003835.4
p.Y101C
c.302A>G
1 paper
NM_003835.4
p.Y84S
c.251A>C
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